Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

6 structures for P08151

Entry ID Method Resolution Chain Position Source
2GLI X-ray 260 A A 234-388 PDB
4BLB X-ray 280 A E/F/G/H 115-131 PDB
4KMD X-ray 170 A B 112-128 PDB
5OM0 X-ray 320 A A/B 637-645 PDB
7T91 X-ray 205 A A/B 234-302 PDB
AF-P08151-F1 Predicted AlphaFoldDB

943 variants for P08151

Variant ID(s) Position Change Description Diseaes Association Provenance
CA385461302
rs748321474
RCV000680279
113 R>* Polydactyly, postaxial, type A8 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
VAR_081480 113 R>del PAPA8 [UniProt] Yes UniProt
rs193921005
RCV000149082
CA174313
COSM1178809
177 C>Y Malignant tumor of prostate prostate haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
rs563340967
RCV000585767
CA6648621
274 G>R Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001261999
rs1871565914
329 K>* Polydactyly, postaxial, type A8 [ClinVar] Yes ClinVar
dbSNP
CA6648801
rs753690500
RCV000770752
VAR_082590
506 L>Q PPD1; unknown pathological significance [UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
RCV000680278
rs1565601979
CA385470890
644 Q>* Polydactyly, postaxial, type A8 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_081481 644 Q>del PAPA8 [UniProt] Yes UniProt
rs1871871826
RCV001270223
743 Y>H Premature ovarian failure [ClinVar] Yes ClinVar
dbSNP
RCV000680277
CA385473122
rs1309855392
780 W>* Polydactyly, postaxial, type A8 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
VAR_081482 780 W>del PAPA8; decreased transcriptional activity; reduced expression of the GLI1 target PTCH1 observed in patient fibroblasts after chemical induction of the hedgehog pathway [UniProt] Yes UniProt
RCV001334380
rs1871977265
1022 G>missing Polydactyly, postaxial, type A8 [ClinVar] Yes ClinVar
dbSNP
TCGA novel 2 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648325
rs779451445
3 N>T No ClinGen
ExAC
gnomAD
CA6648326
rs141757554
4 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1594742252
CA385459655
6 T>P No ClinGen
Ensembl
rs1311532229
CA385459702
9 P>Q No ClinGen
TOPMed
CA6648330
rs533354109
10 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs748024303
CA6648329
10 I>V No ClinGen
ExAC
gnomAD
rs1010940668
CA237783168
11 S>N No ClinGen
TOPMed
CA385459751
rs1313805644
13 Y>C No ClinGen
gnomAD
CA385459755
rs1377673984
14 G>S No ClinGen
gnomAD
CA6648331
rs773228040
14 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA6648333
rs766446724
15 E>A No ClinGen
ExAC
gnomAD
CA237783188
rs890327478
15 E>K No ClinGen
TOPMed
CA6648334
rs552135928
16 P>H No ClinGen
1000Genomes
ExAC
gnomAD
CA6648335
rs759777434
19 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6648337
rs199861974
20 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199861974
CA237783225
20 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767782645
CA6648336
COSM942034
20 R>W endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6648338
rs756402955
23 P>A No ClinGen
ExAC
gnomAD
CA385459868
rs1429409127
23 P>L No ClinGen
gnomAD
rs1566558142
CA385459894
25 Q>P No ClinGen
Ensembl
CA6648340
rs764455953
26 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs754294090
CA385459926
27 A>D No ClinGen
ExAC
gnomAD
rs754294090
CA6648341
27 A>V No ClinGen
ExAC
gnomAD
rs200183475
CA237783273
28 P>S No ClinGen
gnomAD
TCGA novel 31 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648342
rs757744788
31 G>E No ClinGen
ExAC
gnomAD
rs779593964
CA6648343
32 T>R No ClinGen
ExAC
gnomAD
TCGA novel 33 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746560370
CA6648344
33 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA237783284
rs1035246842
33 E>Q No ClinGen
TOPMed
rs1440421197
CA385460055
34 G>E No ClinGen
TOPMed
rs1383562588
CA385460006
34 G>R No ClinGen
gnomAD
CA237783433
rs936956795
35 L>M No ClinGen
Ensembl
CA385460085
rs1165299385
37 G>S No ClinGen
gnomAD
CA385460104
rs1392573638
COSM1253287
38 P>L oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA385460107
rs1418545492
39 P>S No ClinGen
TOPMed
TCGA novel 41 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1594742645
CA385460139
42 H>P No ClinGen
Ensembl
rs1236664410
CA385460151
43 Q>E No ClinGen
gnomAD
rs780874033
CA6648364
45 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA385460191
rs1328811148
46 L>F No ClinGen
TOPMed
gnomAD
CA385460212
rs1594742670
47 M>T No ClinGen
Ensembl
rs537495636
CA6648367
49 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs537495636
CA6648366
49 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749091656
CA6648368
52 S>G No ClinGen
ExAC
gnomAD
CA385460289
rs1566558325
53 Y>N No ClinGen
Ensembl
CA385460319
rs1566558352
55 P>S No ClinGen
Ensembl
rs770894336
CA6648369
56 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs778646808
CA6648370
57 R>S No ClinGen
ExAC
gnomAD
rs1272787826
CA385460349
57 R>T No ClinGen
TOPMed
rs1362862333
CA385460354
58 E>K No ClinGen
TOPMed
gnomAD
CA385460357
rs1362862333
58 E>Q No ClinGen
TOPMed
gnomAD
rs375170232
CA6648371
59 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648372
rs772090740
63 T>S No ClinGen
ExAC
gnomAD
CA6648374
rs760866050
64 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1389442591
CA385460467
65 G>C No ClinGen
gnomAD
rs1389442591
CA385460463
65 G>S No ClinGen
gnomAD
CA6648397
rs770016487
67 L>F No ClinGen
ExAC
gnomAD
CA6648400
rs773669041
69 S>A No ClinGen
ExAC
gnomAD
rs763536538
CA6648401
69 S>F No ClinGen
ExAC
gnomAD
rs773669041
CA385460605
69 S>T No ClinGen
ExAC
gnomAD
TCGA novel 69 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760192848
CA385460645
72 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs760192848
CA6648405
72 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199685332
CA6648403
72 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1395670869
CA385460671
74 A>T No ClinGen
gnomAD
CA385460687
rs1436341580
75 V>I No ClinGen
gnomAD
rs267603602
CA237784086
76 K>N No ClinGen
Ensembl
CA385460715
rs1310917004
78 T>A No ClinGen
gnomAD
CA6648406
rs763670345
80 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA385460768
rs1289476480
81 R>L No ClinGen
TOPMed
gnomAD
rs1289476480
CA385460765
81 R>Q No ClinGen
TOPMed
gnomAD
CA6648407
rs753380800
81 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6648409
rs144785382
84 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1364213000
CA385460795
84 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6648408
rs144785382
84 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750276505
CA6648410
85 I>V No ClinGen
ExAC
gnomAD
CA6648411
rs758328227
86 S>* No ClinGen
ExAC
gnomAD
CA6648412
rs779901915
87 P>S No ClinGen
ExAC
gnomAD
CA385460842
rs1415914630
88 L>P No ClinGen
TOPMed
COSM3417025
rs746964085
CA6648413
89 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs781367133
CA6648415
90 D>V No ClinGen
ExAC
gnomAD
CA6648416
rs748291467
91 A>T No ClinGen
ExAC
gnomAD
rs770107383
CA6648417
92 S>N No ClinGen
ExAC
gnomAD
rs1253544916
CA385460960
94 D>A No ClinGen
gnomAD
rs143548857
CA6648418
97 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648422
COSM333546
rs760141461
100 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA385461084
rs763470494
100 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6648423
rs763470494
100 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1419694903
CA385461111
101 T>I No ClinGen
TOPMed
CA385461119
rs1320048458
102 S>P No ClinGen
gnomAD
CA237784177
rs1029168886
103 P>S No ClinGen
TOPMed
CA237784184
rs889338993
104 S>G No ClinGen
Ensembl
CA237784191
rs776244778
104 S>N No ClinGen
ExAC
gnomAD
CA385461169
rs1566558833
104 S>R No ClinGen
Ensembl
CA6648424
rs776244778
104 S>T No ClinGen
ExAC
gnomAD
rs1018955380
CA237784202
105 S>T No ClinGen
gnomAD
rs139570630
CA6648425
RCV000973726
105 S>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1344789388
CA385461192
106 L>F No ClinGen
TOPMed
gnomAD
rs1285900168
CA385461208
107 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6648426
rs765007750
108 A>T No ClinGen
ExAC
gnomAD
CA237784219
rs1011225180
108 A>V No ClinGen
TOPMed
gnomAD
CA6648428
rs758132104
109 F>V No ClinGen
ExAC
gnomAD
CA6648429
rs766185741
110 I>F No ClinGen
ExAC
gnomAD
CA385461269
rs1260473262
110 I>S No ClinGen
TOPMed
CA385461260
rs766185741
110 I>V No ClinGen
ExAC
gnomAD
CA385461282
rs1202951566
111 N>S No ClinGen
TOPMed
CA6648430
rs751461298
COSM942036
112 S>L endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM84174
CA6648434
rs756282060
113 R>Q Variant assessed as Somatic; 0.0001386 impact. pancreas endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6648435
rs375940413
115 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774885952
CA6648438
117 P>S No ClinGen
ExAC
gnomAD
rs1243003218
CA385461415
119 G>D No ClinGen
Ensembl
rs772683970
CA6648440
120 S>F No ClinGen
ExAC
gnomAD
rs150011919
CA6648442
121 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367757660
CA6648444
122 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367757660
CA6648443
122 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA385461518
rs1317745506
126 I>T No ClinGen
TOPMed
CA385461528
rs751408248
127 G>A No ClinGen
ExAC
gnomAD
CA6648448
rs751408248
127 G>D No ClinGen
ExAC
gnomAD
rs766134206
COSM1299714
CA6648447
127 G>S Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1476006703
CA385461997
133 L>V No ClinGen
gnomAD
CA237784472
rs889329214
135 F>L No ClinGen
gnomAD
rs368173104
CA237784480
136 P>A No ClinGen
ESP
rs1298522895
CA385462041
136 P>Q No ClinGen
gnomAD
CA6648470
rs145283539
137 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237784493
rs1019239130
138 Q>H No ClinGen
TOPMed
TCGA novel 139 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs898082922
CA237784506
139 M>K No ClinGen
Ensembl
rs199696648
CA6648471
139 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6648472
rs764236015
140 N>K No ClinGen
ExAC
gnomAD
TCGA novel 142 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385462122
rs1393937734
142 Q>K No ClinGen
gnomAD
rs1281162936
CA690269874
142 Q>R No ClinGen
TOPMed
CA385462158
rs1233812896
144 G>W No ClinGen
TOPMed
CA6648473
rs754019701
146 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 146 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371590132
CA6648476
147 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758741662
CA6648477
148 S>A No ClinGen
ExAC
gnomAD
rs780316234
COSM4152909
CA6648478
149 F>S kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA6648479
rs554594367
150 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA237784550
rs773331571
151 V>F No ClinGen
TOPMed
gnomAD
rs777248037
CA6648482
153 P>L No ClinGen
ExAC
gnomAD
rs777248037
CA6648481
153 P>R No ClinGen
ExAC
gnomAD
CA385462223
rs1255791245
154 C>F No ClinGen
TOPMed
gnomAD
CA6648483
rs202066753
154 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA237784621
rs944167135
156 P>R No ClinGen
TOPMed
rs774001028
CA385462233
156 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs774001028
CA6648484
156 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1039477087
CA237784643
157 H>R No ClinGen
TOPMed
gnomAD
CA237784627
rs867870031
157 H>Y No ClinGen
Ensembl
rs1022750237
CA237784645
160 A>P No ClinGen
Ensembl
COSM1363303
CA6648486
rs149185944
161 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6648485
rs142957882
161 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1397293500
CA385462306
162 G>S No ClinGen
gnomAD
CA385462313
rs1464194780
162 G>V No ClinGen
gnomAD
rs1385280044
CA385462322
163 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1486969055
CA385462335
164 M>T No ClinGen
TOPMed
CA237784648
rs971226763
167 H>Y No ClinGen
TOPMed
CA6648489
rs542007910
168 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs542007910
CA6648488
RCV000904895
168 P>R No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs776846382
CA6648490
171 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs765428970
CA6648492
171 R>Q No ClinGen
ExAC
gnomAD
CA6648491
rs776846382
171 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA385462444
rs1224544686
172 G>A No ClinGen
TOPMed
rs1224544686
CA385462440
172 G>E No ClinGen
TOPMed
CA6648493
rs750617572
172 G>R No ClinGen
ExAC
gnomAD
TCGA novel 173 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385462455
rs1232329180
173 P>R No ClinGen
gnomAD
CA6648495
rs766741235
175 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs956153433
CA237784660
176 T>A No ClinGen
gnomAD
rs956153433
CA385462494
176 T>S No ClinGen
gnomAD
CA385462651
rs1179532652
182 E>V No ClinGen
gnomAD
CA6648513
rs766573156
183 L>P No ClinGen
ExAC
gnomAD
CA6648514
rs751780759
185 M>I No ClinGen
ExAC
gnomAD
CA6648515
rs755282838
189 K>T No ClinGen
ExAC
gnomAD
CA385462735
rs1281870068
190 C>G No ClinGen
TOPMed
rs767895421
CA6648516
190 C>Y No ClinGen
ExAC
gnomAD
rs151317566
CA6648519
191 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756656703
CA6648518
191 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA237784929
CA385462775
rs2228225
192 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6648520
rs375756845
192 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867823477
CA237784930
193 E>K No ClinGen
Ensembl
CA6648522
rs779506563
194 P>S No ClinGen
ExAC
gnomAD
rs1314946688
CA385462853
197 G>A No ClinGen
gnomAD
CA6648523
rs746681579
198 D>G No ClinGen
ExAC
gnomAD
CA385462860
rs1320393599
198 D>H No ClinGen
gnomAD
rs746681579
CA385462867
198 D>V No ClinGen
ExAC
gnomAD
CA237784944
rs953723851
199 M>I No ClinGen
Ensembl
CA6648524
rs768531179
200 S>P No ClinGen
ExAC
gnomAD
rs776606983
CA6648525
202 P>L No ClinGen
ExAC
gnomAD
CA6648526
rs748075302
204 S>A No ClinGen
ExAC
gnomAD
rs868274692
CA237784967
206 G>D No ClinGen
Ensembl
rs769675836
CA385463012
208 Q>* No ClinGen
ExAC
gnomAD
rs769675836
CA6648527
208 Q>E No ClinGen
ExAC
gnomAD
rs1409773154
CA385463025
208 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 209 D>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648544
rs769632060
209 D>V No ClinGen
ExAC
TOPMed
gnomAD
VAR_035557 210 P>A a breast cancer sample; somatic mutation [UniProt] No UniProt
CA6648548
rs777509564
212 L>F No ClinGen
ExAC
gnomAD
rs1221339030
CA385463120
213 G>R No ClinGen
gnomAD
CA6648549
rs200793383
214 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs145720544
CA385463155
216 D>N No ClinGen
ESP
TOPMed
gnomAD
rs138672716
CA6648550
216 D>V No ClinGen
ESP
ExAC
TOPMed
CA237785060
rs145720544
216 D>Y No ClinGen
ESP
TOPMed
gnomAD
CA237785065
rs1040509893
218 R>Q No ClinGen
TOPMed
gnomAD
CA385463182
rs1215799189
218 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs759734150
CA6648552
219 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA237785103
rs929570412
220 D>G No ClinGen
Ensembl
CA385463205
rs1455558333
220 D>Y No ClinGen
TOPMed
rs1478880212
CA385463219
221 L>F No ClinGen
gnomAD
rs772340309
CA6648553
221 L>H No ClinGen
ExAC
gnomAD
COSM3688367
CA6648554
rs369404558
222 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6648555
rs760883025
223 R>K No ClinGen
ExAC
gnomAD
CA237785145
rs754258666
225 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs764532761
CA6648557
225 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1566559797 225 E>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs762421780
CA6648559
226 K>E No ClinGen
ExAC
gnomAD
rs200097138
CA6648562
COSM942038
227 R>C endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200097138
CA6648561
227 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6648564
rs202128734
227 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6648563
rs202128734
227 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755812887
CA6648565
229 P>S No ClinGen
ExAC
gnomAD
CA6648566
rs777659251
231 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs777659251
CA237785171
231 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs770953450
CA6648568
232 V>E No ClinGen
ExAC
gnomAD
CA6648567
rs749153176
232 V>L No ClinGen
ExAC
gnomAD
CA385463401
rs1273736602
235 T>N No ClinGen
gnomAD
rs1295583467
CA385463404
236 D>N No ClinGen
TOPMed
CA385463424
rs1234477341
237 C>Y No ClinGen
TOPMed
CA6648570
rs746017407
238 R>C No ClinGen
ExAC
gnomAD
rs548133983
CA6648571
238 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385463496
rs1183121569
242 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA385463528
rs1471642360
244 Q>R No ClinGen
gnomAD
TCGA novel 245 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648573
rs747277465
246 F>V No ClinGen
ExAC
gnomAD
rs1594744867
CA385463576
247 D>A No ClinGen
Ensembl
CA237785228
rs867676131
247 D>E No ClinGen
gnomAD
rs768871917
CA6648574
248 S>F No ClinGen
ExAC
TOPMed
rs1321934189
CA385463604
249 Q>H No ClinGen
gnomAD
rs1349631593
CA385463617
250 E>G No ClinGen
gnomAD
TCGA novel 251 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1227177051
CA385463638
253 V>E No ClinGen
TOPMed
gnomAD
rs773802622
CA6648600
255 H>D No ClinGen
ExAC
gnomAD
CA237785478
rs113210621
256 I>V No ClinGen
TOPMed
TCGA novel 258 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150321991
CA237785505
258 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA237785536
rs775119859
259 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA6648603
rs775119859
259 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775119859
CA6648604
259 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA385463714
rs7973381
262 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1594745250
COSM192339
CA385463718
263 G>E large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs574196970
COSM138886
CA6648606
263 G>R skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM1323137
CA6648608
rs201621277
265 R>Q ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6648607
rs200444628
265 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200253557
CA385463755
268 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385463756
rs758378363
269 V>L No ClinGen
ExAC
gnomAD
CA6648610
rs758378363
269 V>M No ClinGen
ExAC
gnomAD
rs1332932674
CA385463773
271 H>R No ClinGen
gnomAD
CA385463771
rs1412253333
271 H>Y No ClinGen
gnomAD
CA6648616
rs547877619
272 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6648614
rs368789621
272 W>* No ClinGen
ESP
ExAC
gnomAD
rs547877619
CA6648615
CA6648617
272 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368789621
CA6648613
272 W>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs368789621
CA385463780
272 W>S No ClinGen
ESP
ExAC
gnomAD
rs1486673896
CA385463785
273 G>E No ClinGen
TOPMed
rs770240474
CA385463781
273 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6648618
rs770240474
273 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs759448855 274 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6648620
rs563340967
274 G>C Bardet-biedl syndrome (bbs) [Ensembl] No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs563340967
CA6648619
274 G>S Bardet-biedl syndrome (bbs) [Ensembl] No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759448855 275 C>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6648622
rs774861127
275 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA237785636
rs569102560
278 E>D No ClinGen
Ensembl
rs768066916
CA6648624
278 E>K No ClinGen
ExAC
gnomAD
rs776298132
CA6648625
278 E>V No ClinGen
ExAC
gnomAD
rs948970008
CA237785643
279 L>P No ClinGen
Ensembl
TCGA novel 280 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465714577
CA385463859
285 Q>H No ClinGen
TOPMed
gnomAD
TCGA novel 288 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648626
rs761485628
289 V>M No ClinGen
ExAC
gnomAD
CA237785653
rs928625407
292 M>K No ClinGen
Ensembl
CA385463932
rs1449223777
296 T>S No ClinGen
gnomAD
CA6648629
rs374948623
298 E>K No ClinGen
ESP
ExAC
gnomAD
CA385463943
rs374948623
298 E>Q No ClinGen
ESP
ExAC
gnomAD
rs1476843535
CA385463958
300 P>S No ClinGen
gnomAD
rs1476843535
CA385463959
300 P>T No ClinGen
gnomAD
rs765329581
CA237785658
301 H>P No ClinGen
Ensembl
rs766271134
CA237785665
301 H>Q No ClinGen
ExAC
gnomAD
CA237785657
rs1053141462
301 H>Y No ClinGen
gnomAD
rs755035040
CA6648632
304 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs754128019
CA6648656
305 F>L No ClinGen
ExAC
gnomAD
rs376773615
CA6648657
307 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385464814
rs376773615
307 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779176901
CA6648658
308 C>G No ClinGen
ExAC
gnomAD
CA6648660
rs767216717
309 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs369128119
CA6648659
309 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 311 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648662
rs144052713
311 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385464890
rs1168996924
312 Y>H No ClinGen
gnomAD
rs772799269
COSM3384536
CA6648664
314 R>C pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6648665
rs373249560
314 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM468710
CA385464933
rs373249560
314 R>L kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6648667
rs774058977
316 E>K No ClinGen
ExAC
gnomAD
rs1594746365
CA385464987
317 N>T No ClinGen
Ensembl
CA6648669
rs564027387
COSM1208280
320 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA385465052
rs1594746378
321 H>P No ClinGen
Ensembl
COSM431580
rs764293116
CA6648672
323 R>W breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 325 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648673
rs754075170
326 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA385465180
rs1423191974
328 E>Q No ClinGen
gnomAD
CA237786477
rs1018269403
329 K>M No ClinGen
Ensembl
rs765613579
CA6648675
331 Y>C No ClinGen
ExAC
gnomAD
rs774006233
CA6648676
332 M>I No ClinGen
ExAC
gnomAD
rs1162872976
CA385465291
332 M>R No ClinGen
TOPMed
CA385465339
rs1443049195
334 E>V No ClinGen
TOPMed
CA385465352
rs1427628204
335 H>Y No ClinGen
gnomAD
rs913242901
CA237786513
336 E>Q No ClinGen
TOPMed
gnomAD
rs1466556322
CA385465408
337 G>V No ClinGen
gnomAD
rs1452587369
CA385465439
339 S>G No ClinGen
TOPMed
gnomAD
CA237786525
rs779647343
339 S>T No ClinGen
Ensembl
rs753096494
CA237786537
341 A>P No ClinGen
TOPMed
rs201283310
CA237786540
343 S>I No ClinGen
1000Genomes
gnomAD
CA385465533
rs201283310
343 S>N No ClinGen
1000Genomes
gnomAD
rs200802561
CA6648680
345 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs200802561
CA6648681
345 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA6648682
rs748944886
345 A>V No ClinGen
ExAC
gnomAD
rs1357736300
CA385465617
347 D>H No ClinGen
gnomAD
rs1460787785
CA385465642
348 R>* No ClinGen
TOPMed
gnomAD
CA385465650
rs745587766
348 R>P No ClinGen
ExAC
gnomAD
CA6648685
rs745587766
348 R>Q No ClinGen
ExAC
gnomAD
rs772010511
CA6648686
349 A>T No ClinGen
ExAC
gnomAD
rs1288588785
CA385465726
351 H>Q No ClinGen
TOPMed
COSM459417
CA385465773
rs1447419974
354 R>W cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA6648687
rs775520299
358 N>H No ClinGen
ExAC
gnomAD
rs760726253
CA6648688
359 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6648721
rs373770232
361 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs562388922
CA6648724
364 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1182931922
CA385466102
365 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs746732590
CA6648725
368 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA6648727
rs768582577
370 T>N No ClinGen
ExAC
gnomAD
rs768582577
CA6648726
370 T>S No ClinGen
ExAC
gnomAD
rs1415230750
CA385466184
371 K>E No ClinGen
gnomAD
rs142822754
COSM1677113
CA6648729
372 R>C haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs142822754
CA237787014
372 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237787043
rs913592640
372 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA385466276
rs1377756221
375 D>A No ClinGen
gnomAD
rs1430036137
CA385466288
376 P>T No ClinGen
gnomAD
CA237787046
rs774005775
378 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs759838377
CA6648734
380 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1381253752
COSM275303
CA385466376
380 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA237787061
rs761649230
382 H>D No ClinGen
Ensembl
rs1206103248
CA385466457
386 V>A No ClinGen
gnomAD
rs1206103248
CA385466456
386 V>G No ClinGen
gnomAD
rs1289816548
CA385466450
386 V>M No ClinGen
TOPMed
rs764631331
CA6648738
391 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs750013335
CA6648739
392 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA385466558
rs1332819968
394 T>I No ClinGen
TOPMed
CA385466549
rs1238490848
394 T>P No ClinGen
gnomAD
TCGA novel 394 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370035260
CA6648740
395 K>E No ClinGen
ESP
ExAC
gnomAD
CA6648743
rs754780184
396 R>Q No ClinGen
ExAC
gnomAD
rs374429707
CA6648741
396 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648744
rs374433509
397 H>N No ClinGen
ExAC
gnomAD
rs1594747075
CA385466585
397 H>P No ClinGen
Ensembl
rs374063272
CA6648745
398 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648747
rs376293205
398 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs376293205
CA6648746
398 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs771013899
CA6648749
399 G>E No ClinGen
ExAC
gnomAD
CA6648748
rs749295894
399 G>R No ClinGen
ExAC
gnomAD
CA6648750
rs774512369
402 P>S No ClinGen
ExAC
gnomAD
CA237787150
rs772813225
403 L>M No ClinGen
TOPMed
gnomAD
rs1365637290
CA385466649
403 L>P No ClinGen
gnomAD
rs772813225
CA237787145
403 L>V No ClinGen
TOPMed
gnomAD
CA385466657
rs1230414150
404 P>A No ClinGen
gnomAD
COSM3688368
rs114543757
CA6648751
RCV000972851
405 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs925036184
CA237787155
405 R>W No ClinGen
TOPMed
gnomAD
CA385466672
rs1195244430
406 A>S No ClinGen
gnomAD
rs76639319
CA237787156
409 I>L No ClinGen
Ensembl
CA6648752
rs772293856
411 T>A No ClinGen
ExAC
gnomAD
rs775972834
CA6648753
414 P>L No ClinGen
ExAC
gnomAD
CA385466797
rs1202305900
416 R>M No ClinGen
gnomAD
rs761075652
CA6648754
417 E>V No ClinGen
ExAC
gnomAD
CA385466820
rs777289743
418 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA6648756
rs777289743
418 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6648755
rs564218374
418 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762501146
CA6648757
420 G>A No ClinGen
ExAC
gnomAD
TCGA novel 420 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648758
rs200169408
421 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1184579144
CA385466858
422 P>T No ClinGen
TOPMed
rs1272008775
CA385466868
423 I>V No ClinGen
TOPMed
CA385466880
rs1172618277
424 R>W No ClinGen
TOPMed
gnomAD
CA385466913
rs1346897982
428 R>T No ClinGen
TOPMed
rs878961758
CA237787184
431 V>M No ClinGen
gnomAD
rs751225573
CA6648759
436 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA385467895
rs1347624463
440 P>Q No ClinGen
gnomAD
rs1403117676
CA385467904
441 S>R No ClinGen
gnomAD
rs1565600752
CA385467920
444 A>D No ClinGen
Ensembl
CA6648774
rs777236611
444 A>T No ClinGen
ExAC
gnomAD
CA385467935
rs1241770121
446 S>* No ClinGen
TOPMed
gnomAD
rs368194993
CA6648775
450 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765965806
CA6648776
453 S>C No ClinGen
ExAC
gnomAD
rs1316321490
CA385467983
453 S>P No ClinGen
TOPMed
CA6648777
rs149950420
454 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1198007042
CA385467992
455 A>T No ClinGen
gnomAD
rs1437303769
CA385467995
455 A>V No ClinGen
gnomAD
CA385468001
rs1305707895
456 G>E No ClinGen
gnomAD
rs1594748345
CA385468005
457 S>G No ClinGen
Ensembl
CA6648781
rs760472253
458 A>P No ClinGen
ExAC
gnomAD
rs763911800
CA6648782
459 A>G No ClinGen
ExAC
gnomAD
rs1363221091
CA385468027
460 N>S No ClinGen
TOPMed
gnomAD
rs924034005
CA237788204
461 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs200730656
CA237788213
463 S>N No ClinGen
1000Genomes
CA385468060
rs1360086366
465 V>A No ClinGen
TOPMed
rs1164792355
CA385468086
467 M>R No ClinGen
gnomAD
rs1164792355
CA385468085
467 M>T No ClinGen
gnomAD
CA385468111
rs1367624794
469 G>D No ClinGen
gnomAD
rs1302817146
CA385468120
470 N>Y No ClinGen
gnomAD
CA237788220
rs374392091
473 G>D No ClinGen
ESP
TOPMed
gnomAD
CA6648785
rs757234675
475 T>I No ClinGen
ExAC
gnomAD
TCGA novel 477 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385468214
COSM1677114
rs1335695170
478 L>F breast [Cosmic] No ClinGen
cosmic curated
gnomAD
CA237788243
rs890425801
478 L>P No ClinGen
TOPMed
rs1471801240
CA385468230
479 S>C No ClinGen
TOPMed
rs778951240
CA6648786
485 P>L No ClinGen
ExAC
gnomAD
CA6648787
rs750584946
486 C>Y No ClinGen
ExAC
gnomAD
rs1221239451
CA385468356
487 I>M No ClinGen
gnomAD
rs1274977868
CA385468370
488 A>V No ClinGen
TOPMed
gnomAD
CA6648788
rs368186732
489 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780272131
CA6648789
490 T>A No ClinGen
ExAC
gnomAD
CA6648790
rs185679191
491 G>C No ClinGen
1000Genomes
ExAC
gnomAD
CA6648791
rs769033058
491 G>D No ClinGen
ExAC
gnomAD
rs185679191
CA385468399
491 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA385468437
rs1445951282
493 S>C No ClinGen
TOPMed
rs12578516
CA237788281
495 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA6648795
rs139792497
496 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6648796
rs759027001
496 R>H Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs533875222
CA6648797
497 R>C No ClinGen
ExAC
gnomAD
CA6648798
rs775171324
497 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1396343650
CA385468497
498 L>I No ClinGen
gnomAD
rs1397157719
CA385468537
501 L>V No ClinGen
gnomAD
rs890152411
CA237788306
502 R>G No ClinGen
Ensembl
CA6648799
rs760289179
502 R>K No ClinGen
ExAC
gnomAD
CA237788319
rs866686999
506 L>I No ClinGen
Ensembl
rs147931475
CA6648804
510 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648805
rs147931475
510 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000960167
CA6648803
rs149817893
510 R>W No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs566564028
CA6648807
512 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs963099490
CA237788344
513 G>R No ClinGen
TOPMed
gnomAD
VAR_035558 514 T>I a breast cancer sample; somatic mutation [UniProt] No UniProt
CA385468800
rs781683841
515 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA6648809
rs781683841
515 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6648808
COSM1476779
rs375428680
515 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1565600997
CA385468806
516 G>C No ClinGen
Ensembl
rs1168450436
CA385468878
520 P>A No ClinGen
TOPMed
rs1372547639
CA385468882
520 P>L No ClinGen
gnomAD
rs990717142
CA237788382
521 S>N No ClinGen
TOPMed
rs1565601019
CA385468948
523 S>C No ClinGen
Ensembl
rs756280054 525 T>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs774916232
CA6648815
526 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1440205364
CA385469112
526 G>V No ClinGen
gnomAD
rs1314898459
CA385469153
528 T>I No ClinGen
gnomAD
TCGA novel 529 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385469189
rs1487397766
530 S>F No ClinGen
TOPMed
CA6648829
rs756509884
531 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6648830
rs147758271
531 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648831
rs749783306
532 R>C No ClinGen
ExAC
gnomAD
rs200306754
CA6648832
COSM3398928
532 R>H central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6648833
rs779612265
533 V>M No ClinGen
ExAC
gnomAD
rs746451282
CA6648834
534 G>A No ClinGen
ExAC
COSM144946
rs144673003
CA6648835
535 P>S breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6648836
rs529336310
537 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6648837
rs747836770
538 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 539 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648839
rs544591554
541 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1426197874
CA385469387
541 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs143462399
CA6648840
542 R>C No ClinGen
ESP
ExAC
TOPMed
CA6648841
rs766159479
542 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA385469402
rs766159479
542 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6648842
rs766159479
542 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA385469468
rs1344298200
545 S>R No ClinGen
gnomAD
CA237788757
rs372102723
546 S>C No ClinGen
ESP
gnomAD
rs200128720
CA6648844
549 I>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6648843
rs200128720
549 I>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200128720
CA6648845
549 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6648846
rs756456896
550 S>N No ClinGen
ExAC
gnomAD
TCGA novel 552 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1424981970
CA385469596
553 Y>C No ClinGen
TOPMed
CA6648850
COSM3671145
rs201845227
557 R>C prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA6648851
rs746398371
557 R>H No ClinGen
ExAC
gnomAD
rs371089900
CA6648852
558 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs972690369
COSM942042
CA237788813
558 R>H Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs972690369
CA385469703
558 R>P No ClinGen
TOPMed
gnomAD
rs1029055257
CA237788816
559 S>P No ClinGen
TOPMed
rs780728258
CA6648853
560 S>F No ClinGen
ExAC
gnomAD
CA385469800
rs1594749403
565 F>S No ClinGen
Ensembl
rs747785448
CA6648854
566 P>A No ClinGen
ExAC
gnomAD
rs201050450
CA385469823
566 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201050450
CA385469826
566 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6648855
rs201050450
566 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368138761
CA6648858
567 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 567 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368138761
CA6648856
567 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368138761
CA6648857
567 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA385469856
rs1325105370
569 S>T No ClinGen
TOPMed
rs1275055587
CA385469897
571 P>T No ClinGen
TOPMed
COSM1208282
CA385469927
rs1409981398
572 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA6648860
rs759589302
572 E>Q No ClinGen
ExAC
gnomAD
rs566991727
CA385469959
574 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs267603605
COSM549256
CA237788852
574 G>R lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs566991727
CA6648861
574 G>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6648862
rs775773783
575 A>T No ClinGen
ExAC
gnomAD
rs367578462
CA6648864
576 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385469981
rs1565601582
576 S>P No ClinGen
Ensembl
CA6648865
rs764155302
577 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA385470010
rs764155302
577 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6648866
rs754106947
579 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA237788881
rs527900026
580 G>S No ClinGen
gnomAD
CA6648867
rs200441300
582 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6648868
rs765668438
584 A>G No ClinGen
ExAC
CA385470153
rs1464108125
585 Q>P No ClinGen
TOPMed
CA237788886
rs750904883
587 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs750904883
CA6648869
587 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs199642258
CA6648872
590 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199642258
CA6648871
590 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758959112
CA6648870
590 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6648873
rs755663159
593 Y>C No ClinGen
ExAC
gnomAD
CA237788905
rs541715256
594 A>V No ClinGen
gnomAD
CA6648874
rs777242040
596 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6648877
rs376908129
598 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376908129
CA6648876
598 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385470336
rs1183640785
598 G>R No ClinGen
TOPMed
CA385470344
rs376908129
598 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV001175556
rs758888293
599 G>missing No ClinVar
dbSNP
CA385470352
rs1416740082
599 G>D No ClinGen
gnomAD
rs1196728531
CA385470346
599 G>S No ClinGen
TOPMed
CA6648878
rs147997893
600 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385470358
rs147997893
600 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1199397071
CA385470365
600 G>V No ClinGen
TOPMed
CA385470369
rs1337303625
601 T>A No ClinGen
gnomAD
CA6648880
rs201538749
602 S>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1262154436
CA385470429
606 A>E No ClinGen
TOPMed
rs1309131329
CA385470472
609 L>P No ClinGen
TOPMed
rs1042660638
CA237788953
610 D>A No ClinGen
TOPMed
gnomAD
rs1042660638
CA237788954
610 D>G No ClinGen
TOPMed
gnomAD
CA385470480
rs1042660638
610 D>V No ClinGen
TOPMed
gnomAD
rs765569651
CA385470490
611 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6648886
rs765569651
611 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6648885
rs368078339
611 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1202123173
CA385470546
616 P>L No ClinGen
gnomAD
TCGA novel 616 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750849875
CA6648887
617 M>I No ClinGen
ExAC
gnomAD
CA237788955
rs915631630
617 M>L No ClinGen
TOPMed
CA385470548
rs915631630
617 M>V No ClinGen
TOPMed
rs766813817
CA6648889
618 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6648888
rs763307946
618 P>S No ClinGen
ExAC
rs372578437
CA6648891
619 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648890
rs368007733
619 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA385470584
rs1474754798
620 W>* No ClinGen
gnomAD
rs375530514
CA6648892
622 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1238988
CA385470626
rs1594749795
623 R>* oesophagus [Cosmic] No ClinGen
cosmic curated
Ensembl
CA6648893
rs753413155
623 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs370091854
CA6648896
624 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756993955
CA6648895
624 A>P No ClinGen
ExAC
gnomAD
rs756993955
CA6648894
624 A>T No ClinGen
ExAC
gnomAD
rs1320531045
CA385470654
625 E>D No ClinGen
gnomAD
CA6648898
rs768202810
625 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772925983
CA237788980
626 Y>H No ClinGen
Ensembl
rs1011961312
CA237788986
628 G>V No ClinGen
TOPMed
rs200861277
CA6648901
629 Y>C No ClinGen
ESP
ExAC
TOPMed
rs747001298
CA6648899
629 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs140787723
CA6648903
COSM74756
632 N>K ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs906720694
CA237788996
632 N>S No ClinGen
Ensembl
rs555698950
CA6648904
633 A>V No ClinGen
1000Genomes
ExAC
rs1359000505
CA385470763
634 G>R No ClinGen
TOPMed
rs1594749920
CA385470779
635 V>G No ClinGen
Ensembl
CA385470792
rs1263121069
636 T>I No ClinGen
gnomAD
rs538595523
COSM74757
CA6648908
637 R>Q ovary endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA6648907
rs200606293
637 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385470838
rs1192194289
640 S>T No ClinGen
Ensembl
TCGA novel 641 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648910
rs763500947
641 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6648911
rs753456662
642 P>S No ClinGen
ExAC
gnomAD
rs756725183
CA6648912
648 R>C No ClinGen
ExAC
gnomAD
COSM1736472
CA6648913
rs367789336
648 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1414375643
CA385470979
651 P>Q No ClinGen
TOPMed
CA385471046
rs1419295145
657 F>V No ClinGen
gnomAD
CA385471072
CA6648916
rs374770255
658 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385471074
rs1367515244
659 S>R No ClinGen
gnomAD
CA6648918
rs755006681
661 G>S No ClinGen
ExAC
gnomAD
CA385471112
rs1336880663
662 C>S No ClinGen
TOPMed
gnomAD
CA6648920
rs748196652
663 V>A No ClinGen
ExAC
gnomAD
rs780992909
CA6648919
663 V>I No ClinGen
ExAC
gnomAD
rs1018123186
CA237789083
664 H>R No ClinGen
TOPMed
gnomAD
CA6648922
rs150127797
664 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648925
rs572181120
666 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs572181120
CA385471161
666 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1420836393
CA385471173
667 P>T No ClinGen
gnomAD
rs775875244
CA6648928
668 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6648927
rs768002671
668 T>P No ClinGen
ExAC
gnomAD
rs138680284
CA6648929
670 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1460485464
CA385471218
671 G>R No ClinGen
gnomAD
CA237789117
rs961821733
672 G>A No ClinGen
TOPMed
CA6648931
rs750072514
672 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs766080250
CA6648933
673 G>V No ClinGen
ExAC
gnomAD
TCGA novel 674 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA237789121
rs200775132
676 F>C No ClinGen
1000Genomes
CA385471331
rs1594750151
679 Y>S No ClinGen
Ensembl
rs1166115603
CA385471337
680 L>I No ClinGen
TOPMed
gnomAD
CA237789124
rs974867444
681 P>L No ClinGen
TOPMed
gnomAD
rs1594750178
CA385471360
682 T>P No ClinGen
Ensembl
rs1376612340
CA385471417
686 S>L No ClinGen
gnomAD
rs555605009
CA6648939
687 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA6648940
rs555605009
687 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA385471429
rs1356844630
688 Q>* No ClinGen
gnomAD
rs771211991
CA6648941
688 Q>P No ClinGen
ExAC
gnomAD
CA385471442
rs971887652
689 P>H No ClinGen
TOPMed
gnomAD
rs971887652
CA237789146
689 P>L No ClinGen
TOPMed
gnomAD
CA385471452
rs1193988375
690 P>H No ClinGen
gnomAD
CA6648942
rs779008962
690 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 692 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1185213050
CA385471584
696 A>V No ClinGen
gnomAD
TCGA novel 698 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385471619
rs1164399469
698 M>T No ClinGen
gnomAD
CA237789158
rs11553626
701 R>G No ClinGen
Ensembl
CA6648946
rs372465556
701 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237789189
rs920472026
704 Q>* No ClinGen
Ensembl
CA385471801
rs1255413507
706 E>K No ClinGen
TOPMed
CA6648949
rs762554021
707 P>L No ClinGen
ExAC
gnomAD
rs765994366
CA6648950
709 V>A No ClinGen
ExAC
gnomAD
CA385471863
rs1339134061
709 V>F No ClinGen
gnomAD
rs1339134061
CA385471861
709 V>L No ClinGen
gnomAD
rs141789719
CA6648951
710 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385471913
rs1295917661
712 S>F No ClinGen
gnomAD
CA237789228
rs915604014
713 M>T No ClinGen
TOPMed
gnomAD
rs1450320226
CA385471967
715 G>S No ClinGen
TOPMed
rs949814444
CA385471987
716 S>C No ClinGen
TOPMed
rs949814444
CA237789230
716 S>R No ClinGen
TOPMed
CA6648953
rs767254882
720 P>T No ClinGen
ExAC
gnomAD
TCGA novel 721 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1276506226
CA385472125
722 M>I No ClinGen
TOPMed
rs756100571
CA6648955
724 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA385472239
rs1241006818
727 T>I No ClinGen
gnomAD
CA385472259
rs1368023221
728 D>E No ClinGen
TOPMed
rs1434036639
CA385472271
729 T>N No ClinGen
TOPMed
CA385472358
rs1402320978
734 G>E No ClinGen
TOPMed
rs1331986744
CA385472366
735 P>S No ClinGen
TOPMed
CA385472401
rs1181484660
736 E>D No ClinGen
gnomAD
rs1430318516
CA385472462
739 A>G No ClinGen
gnomAD
rs757297667
CA6648958
742 P>H No ClinGen
ExAC
gnomAD
CA6648957
rs753849741
742 P>S No ClinGen
ExAC
gnomAD
rs753849741
CA385472516
742 P>T No ClinGen
ExAC
gnomAD
rs1397557620
CA385472565
745 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs138157845
COSM3384538
CA6648960
745 A>V pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1465909682
CA385472596
746 R>K No ClinGen
TOPMed
gnomAD
rs1465909682
CA385472589
746 R>T No ClinGen
TOPMed
gnomAD
rs1224563422
CA385472616
747 G>D No ClinGen
TOPMed
gnomAD
CA237789249
rs924399161
749 G>D No ClinGen
Ensembl
CA6648963
rs747509020
752 P>A No ClinGen
ExAC
gnomAD
rs868283139
CA237789261
752 P>L No ClinGen
Ensembl
CA6648964
rs769216016
753 L>F No ClinGen
ExAC
gnomAD
CA6648965
rs777287963
753 L>P No ClinGen
ExAC
gnomAD
rs377236422
CA6648966
754 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648967
rs370486201
755 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1565602524
CA385472743
758 P>T No ClinGen
Ensembl
TCGA novel 759 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759160451
CA6648969
762 G>D No ClinGen
ExAC
gnomAD
rs759160451
CA6648970
762 G>V No ClinGen
ExAC
gnomAD
CA385472898
rs1191551029
765 P>L No ClinGen
gnomAD
CA237789296
rs201271317
766 C>R No ClinGen
1000Genomes
TOPMed
rs752553799
CA6648971
767 P>T No ClinGen
ExAC
gnomAD
rs1011202054
CA237789299
769 Q>E No ClinGen
Ensembl
CA6648973
rs763963114
771 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA385472996
rs1160315310
772 Y>N No ClinGen
gnomAD
CA6648976
rs200374961
775 P>A No ClinGen
1000Genomes
ExAC
gnomAD
CA385473071
rs1365646325
777 Q>K No ClinGen
gnomAD
rs750640199
CA6648977
777 Q>P No ClinGen
ExAC
gnomAD
CA385473113
rs1187351940
779 T>I No ClinGen
gnomAD
CA6648978
rs758609027
781 G>S No ClinGen
ExAC
gnomAD
CA6648979
rs780426081
781 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA237789340
rs778898048
785 S>F No ClinGen
gnomAD
CA385473183
rs1308922331
785 S>P No ClinGen
gnomAD
CA385473201
rs1594750714
786 H>P No ClinGen
Ensembl
CA237789341
rs890755485
786 H>Q No ClinGen
TOPMed
rs755412722
CA6648981
789 L>R No ClinGen
ExAC
gnomAD
CA6648982
rs781748757
794 K>T No ClinGen
ExAC
gnomAD
rs1224828144
CA385473315
795 A>P No ClinGen
TOPMed
gnomAD
rs1352740229
CA385473335
796 L>P No ClinGen
Ensembl
rs748704866
CA6648983
797 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA385473366
rs1478005717
799 T>S No ClinGen
gnomAD
rs74473582
CA237789351
800 Y>H No ClinGen
gnomAD
CA385473393
rs1358164612
801 S>N No ClinGen
TOPMed
CA385473442
rs1264071704
804 P>S No ClinGen
TOPMed
gnomAD
rs1050431269
CA237789353
805 R>* No ClinGen
gnomAD
rs376640247
CA6648984
805 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 807 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6648985
rs773789139
808 H>D No ClinGen
ExAC
gnomAD
rs773789139
CA385473494
808 H>Y No ClinGen
ExAC
gnomAD
CA6648986
rs745528986
810 G>V No ClinGen
ExAC
gnomAD
rs1179799404
CA385473554
812 V>A No ClinGen
TOPMed
CA6648987
rs771559868
812 V>M No ClinGen
ExAC
gnomAD
rs889144124
CA237789361
813 Q>P No ClinGen
TOPMed
gnomAD
rs775139874
CA6648988
816 P>L No ClinGen
ExAC
gnomAD
VAR_035559 817 E>Q a breast cancer sample; somatic mutation [UniProt] No UniProt
rs112209004
CA237789373
819 G>E No ClinGen
TOPMed
gnomAD
CA6648989
rs760414385
819 G>R No ClinGen
ExAC
gnomAD
rs112209004
CA385473634
819 G>V No ClinGen
TOPMed
gnomAD
rs1299872008
CA385473638
820 C>Y No ClinGen
gnomAD
rs763909577
CA6648990
821 P>T No ClinGen
ExAC
gnomAD
rs149553839
CA6648992
823 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237789385
rs993256018
824 S>C No ClinGen
Ensembl
CA6648993
rs765349183
827 T>I No ClinGen
ExAC
gnomAD
CA6648995
rs148731765
831 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6648996
rs766657731
832 C>Y No ClinGen
ExAC
gnomAD
rs751857353
CA6648997
834 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA385474584
rs1351358957
836 H>D No ClinGen
TOPMed
rs1594750946
CA385474587
836 H>P No ClinGen
Ensembl
rs1022618991
CA237791211
836 H>Q No ClinGen
TOPMed
gnomAD
CA385474600
rs1412421207
837 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs758320112
CA237791220
838 S>T No ClinGen
Ensembl
rs371534575
CA6648998
839 E>K No ClinGen
ESP
ExAC
gnomAD
CA385474638
rs1396082920
840 G>R No ClinGen
TOPMed
CA6649000
rs748674893
841 P>L No ClinGen
ExAC
gnomAD
rs1398037874
CA385474655
841 P>S No ClinGen
gnomAD
rs1398037874
CA385474651
841 P>T No ClinGen
gnomAD
CA385474663
rs61734542
842 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778346951
CA6649002
842 P>L No ClinGen
ExAC
gnomAD
CA6649001
rs61734542
842 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385474673
rs1454760110
843 H>Y No ClinGen
gnomAD
rs745312143
CA6649003
844 P>S No ClinGen
ExAC
gnomAD
CA385474720
rs1363551405
846 P>L No ClinGen
gnomAD
rs771594350
CA6649004
846 P>S No ClinGen
ExAC
gnomAD
CA385474739
rs1275653248
848 F>Y No ClinGen
gnomAD
CA385474756
rs1198368567
849 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs775084642
CA6649005
849 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs746704993
CA6649006
850 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6649008
rs768421030
COSM265261
851 Y>* large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA385474785
rs1594751051
851 Y>S No ClinGen
Ensembl
rs1236536860
CA385474795
852 P>A No ClinGen
gnomAD
CA385474803
rs1475421218
852 P>L No ClinGen
gnomAD
CA237791303
rs923953698
853 Q>E No ClinGen
TOPMed
rs1178054958
CA385474821
854 P>A No ClinGen
TOPMed
rs1178054958
CA385474819
854 P>T No ClinGen
TOPMed
TCGA novel 860 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762897107
CA6649012
862 S>L No ClinGen
ExAC
gnomAD
TCGA novel 863 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385474958
rs1412611763
864 P>L No ClinGen
gnomAD
CA385474951
rs1408010708
864 P>S No ClinGen
gnomAD
CA385474968
rs1372410554
865 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1594751175
CA385474974
866 T>P No ClinGen
Ensembl
TCGA novel 867 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385475005
rs1215558059
868 P>S No ClinGen
TOPMed
rs375975477
CA6649014
869 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759894568
CA6649015
869 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs375975477
CA385475016
869 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6649016
rs564746380
870 P>A No ClinGen
ExAC
gnomAD
rs1565603031 870 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6649017
rs564746380
870 P>T No ClinGen
ExAC
gnomAD
rs1199105605
CA385475084
875 S>A No ClinGen
gnomAD
CA385475092
rs1277411648
876 E>G No ClinGen
gnomAD
rs1309887873
CA385475101
877 P>L No ClinGen
TOPMed
rs1219939562
CA385475113
879 P>L No ClinGen
TOPMed
CA6649019
rs778095108
881 L>V No ClinGen
ExAC
gnomAD
rs1565603075
CA385475136
883 F>L No ClinGen
Ensembl
VAR_015114 884 D>A No UniProt
CA6649021
rs142356674
884 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754400912
CA6649020
884 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA385475154
rs1399761461
885 S>F No ClinGen
TOPMed
CA6649023
rs746655729
888 H>D No ClinGen
ExAC
gnomAD
CA6649024
rs768365951
891 G>A No ClinGen
ExAC
gnomAD
TCGA novel 891 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6649025
rs780905505
893 L>F No ClinGen
ExAC
gnomAD
CA6649026
rs747845466
893 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA385475199
rs780905505
893 L>V No ClinGen
ExAC
gnomAD
CA385475215
rs1349827041
895 A>V No ClinGen
TOPMed
rs777734120
CA6649028
896 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs763029899
CA6649029
897 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA6649030
rs147494642
898 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147494642
CA385475229
898 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385475234
rs1231469327
899 C>S No ClinGen
gnomAD
rs201832885
CA6649033
901 Y>* No ClinGen
ExAC
gnomAD
CA6649031
rs774638929
901 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA385475252
rs1274597002
901 Y>D No ClinGen
gnomAD
CA385475258
rs1283519778
902 V>I No ClinGen
gnomAD
TCGA novel 903 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6649035
COSM3812662
rs760909851
905 Q>E Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs764559524
CA6649036
906 Q>* No ClinGen
ExAC
gnomAD
CA6649037
rs754279016
907 E>A No ClinGen
ExAC
gnomAD
TCGA novel 907 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754279016
CA385475294
907 E>V No ClinGen
ExAC
gnomAD
CA237791445
rs371696253
908 L>P No ClinGen
Ensembl
CA385475321
rs1364142518
911 E>D No ClinGen
gnomAD
CA385475324
rs1253674081
912 G>R No ClinGen
gnomAD
CA385475331
rs1269271138
913 G>E No ClinGen
TOPMed
rs757823205
CA6649038
913 G>R No ClinGen
ExAC
rs779539699
CA6649039
914 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs201302136
CA6649040
918 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1488078943
CA385475362
918 A>S No ClinGen
TOPMed
rs201302136
CA237791450
918 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1393016876
CA385475369
919 P>L No ClinGen
gnomAD
CA6649041
rs754500775
919 P>S No ClinGen
ExAC
TCGA novel 920 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368469814
CA6649044
920 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6649045
rs777679896
921 Q>R No ClinGen
ExAC
gnomAD
rs749232881
CA6649046
922 E>A No ClinGen
ExAC
gnomAD
CA385475400
rs1565603289
924 S>C No ClinGen
Ensembl
CA385475421
rs1303794084
927 S>T No ClinGen
TOPMed
CA385475434
rs1306560005
929 K>* No ClinGen
gnomAD
TCGA novel 930 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1051088256
CA237791491
930 F>Y No ClinGen
TOPMed
rs1246021821
CA385475452
932 G>R No ClinGen
gnomAD
rs2228224
CA6649048
VAR_015115
933 G>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 933 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385475462
rs2228224
933 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1353712383
CA385475486
937 S>N No ClinGen
gnomAD
CA385475493
rs1209154299
938 P>S No ClinGen
gnomAD
rs536075646
CA6649050
940 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA6649051
rs145582008
940 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs536075646
CA6649049
940 R>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1594751574
CA385475510
941 A>T No ClinGen
Ensembl
CA6649052
rs775544248
943 A>S No ClinGen
ExAC
gnomAD
CA6649053
rs147740622
943 A>V No ClinGen
ESP
ExAC
TOPMed
CA385475531
rs1565603366
944 P>L No ClinGen
Ensembl
CA385475532
rs1439280977
945 V>M No ClinGen
gnomAD
TCGA novel 947 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs554710046
CA6649055
948 Y>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1370254161
CA385475559
949 G>R No ClinGen
gnomAD
CA385475564
rs1456515400
949 G>V No ClinGen
gnomAD
CA385475569
rs1594751640
950 P>R No ClinGen
Ensembl
CA6649056
rs770718402
951 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA385475574
rs770718402
951 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1594751650
CA385475584
953 G>R No ClinGen
Ensembl
rs765678067
CA6649057
961 S>L No ClinGen
ExAC
gnomAD
CA385475646
rs1449397447
962 G>S No ClinGen
TOPMed
gnomAD
CA237791564
rs866379238
963 S>P No ClinGen
Ensembl
rs750955978
CA6649058
967 P>S No ClinGen
ExAC
gnomAD
TCGA novel 968 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385475696
rs1314505880
970 C>R No ClinGen
gnomAD
CA385475713
rs1451174384
972 E>G No ClinGen
gnomAD
CA237791615
rs867901056
972 E>K No ClinGen
Ensembl
TCGA novel 973 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385475745
rs1243442634
977 G>R No ClinGen
gnomAD
TCGA novel 978 A>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385475751
rs1251765243
978 A>T No ClinGen
TOPMed
gnomAD
rs1319949591
CA385475777
981 A>V No ClinGen
gnomAD
CA6649061
rs752275003
982 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA385475783
rs1257165110
983 H>N No ClinGen
gnomAD
CA385475786
rs1461647143
983 H>P No ClinGen
gnomAD
rs1461647143
CA385475787
983 H>R No ClinGen
gnomAD
rs1394608554
CA385475800
985 A>S No ClinGen
gnomAD
TCGA novel 985 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385475828
rs1184432538
990 R>* No ClinGen
gnomAD
rs370413110
CA6649062
990 R>Q No ClinGen
ESP
ExAC
gnomAD
CA385475847
rs1442415390
993 P>L No ClinGen
gnomAD
rs777293425
CA6649063
994 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs757139167
CA385475857
995 L>* No ClinGen
ExAC
gnomAD
rs757139167
CA6649065
995 L>S No ClinGen
ExAC
gnomAD
rs1467617601
CA385475864
996 P>R No ClinGen
gnomAD
rs778954777
CA6649066
999 Y>* No ClinGen
ExAC
gnomAD
TCGA novel 999 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385475893
rs1470547300
1001 P>T No ClinGen
gnomAD
rs1301885056
CA385475921
1005 G>* No ClinGen
gnomAD
rs772024116
CA6649068
1005 G>V No ClinGen
ExAC
gnomAD
CA385475926
rs1295636010
1006 G>D No ClinGen
gnomAD
rs775698948
CA6649069
1006 G>S No ClinGen
ExAC
gnomAD
CA237791686
rs61739569
1011 C>R No ClinGen
Ensembl
RCV000953667
CA6649070
VAR_052723
rs2229300
1012 G>V No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1216707027
CA385475979
1014 P>S No ClinGen
gnomAD
rs1224740711
CA385476009
1018 R>S No ClinGen
TOPMed
gnomAD
CA6649072
rs776855654
1019 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1257932005
CA385476023
1021 G>E No ClinGen
gnomAD
rs1482417398
CA385476031
1022 G>V No ClinGen
gnomAD
TCGA novel 1022 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762119826
CA6649073
1026 Y>H No ClinGen
ExAC
gnomAD
CA385476053
rs1594752030
1026 Y>S No ClinGen
Ensembl
CA6649074
rs765626709
1027 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6649075
rs773683435
1028 P>L No ClinGen
ExAC
gnomAD
CA6649076
rs773683435
1028 P>R No ClinGen
ExAC
gnomAD
CA237791746
rs1027428919
1030 E>K No ClinGen
gnomAD
CA237791754
rs887643010
1031 G>A No ClinGen
Ensembl
rs1480937061
CA385476097
1033 V>A No ClinGen
gnomAD
CA385476099
rs1357823068
1034 C>S No ClinGen
gnomAD
CA6649079
rs755592734
1034 C>Y No ClinGen
ExAC
gnomAD
CA6649080
rs763752118
1036 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA6649084
rs778903349
1044 N>D No ClinGen
ExAC
gnomAD
CA6649085
rs745789152
1044 N>K No ClinGen
ExAC
gnomAD
CA6649086
rs758432160
1046 Q>E No ClinGen
ExAC
gnomAD
CA6649087
rs779862855
1048 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA385476378
rs1263043549
1054 D>V No ClinGen
gnomAD
CA237791816
rs578089149
1057 Q>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA6649092
rs748413929
1062 P>S No ClinGen
ExAC
gnomAD
CA6649093
rs770128594
1064 S>C No ClinGen
ExAC
gnomAD
rs770128594
CA6649094
1064 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA385476529
rs1237502199
1064 S>P No ClinGen
TOPMed
rs371558176
CA6649095
1066 D>H No ClinGen
ESP
ExAC
gnomAD
rs1565604047
CA385476552
1067 Q>* No ClinGen
Ensembl
CA6649098
rs144893788
1068 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6649097
rs144893788
1068 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6649096
rs149870317
RCV000932082
1068 R>W No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1256380503
CA385476575
1069 G>D No ClinGen
TOPMed
rs761617989
CA6649101
1070 S>G No ClinGen
ExAC
gnomAD
TCGA novel 1070 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA237791870
rs916865788
1070 S>T No ClinGen
TOPMed
CA6649102
rs765120932
1072 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1278558735
CA385476617
1073 H>Y No ClinGen
TOPMed
rs149048217
CA6649103
1074 T>N No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs1594752465
CA385476629
1074 T>P No ClinGen
Ensembl
CA6649104
rs149048217
1074 T>S No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs751486798
CA385476663
1076 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA6649106
rs751486798
1076 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1076 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144663837
CA6649107
1077 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781302385
CA6649108
1079 G>E No ClinGen
ExAC
gnomAD
CA385476710
rs748362709
1081 P>L No ClinGen
ExAC
gnomAD
CA6649109
rs748362709
1081 P>R No ClinGen
ExAC
gnomAD
CA385476720
rs1239576042
1082 N>S No ClinGen
gnomAD
CA385476718
rs1239576042
1082 N>T No ClinGen
gnomAD
CA385476743
rs1342384762
1083 M>I No ClinGen
TOPMed
CA385476806
rs1437404075
1088 M>T No ClinGen
gnomAD
CA6649110
rs769935841
1089 S>T No ClinGen
ExAC
gnomAD
CA6649112
rs749615188
1090 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA6649113
rs771230727
1091 L>F No ClinGen
ExAC
gnomAD
CA237791940
COSM24658
rs267603606
1094 S>F Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs561194556
CA6649114
1096 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA6649116
rs768270155
1097 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1368596205
CA385476938
1098 E>G No ClinGen
TOPMed
VAR_015116
rs2228226
CA6649119
1100 E>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA385477033
rs1488849799
1105 S>G No ClinGen
TOPMed
rs914337244
CA237791987
1105 S>N No ClinGen
TOPMed
CA6649121
rs764926851
1106 A>D No ClinGen
ExAC
rs1409856982
CA385477046
1106 A>T No ClinGen
TOPMed
gnomAD

2 associated diseases with P08151

[MIM: 618123]: Polydactyly, postaxial, A8 (PAPA8)

A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. {ECO:0000269|PubMed:28973407}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 174400]: Polydactyly, preaxial 1 (PPD1)

A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb. {ECO:0000269|PubMed:30620395}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. {ECO:0000269|PubMed:28973407}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb. {ECO:0000269|PubMed:30620395}. Note=The disease may be caused by variants affecting the gene represented in this entry.

5 regional properties for P08151

Type Name Position InterPro Accession
domain Zinc finger C2H2-type 235 - 267 IPR013087-1
domain Zinc finger C2H2-type 268 - 300 IPR013087-2
domain Zinc finger C2H2-type 301 - 330 IPR013087-3
domain Zinc finger C2H2-type 331 - 361 IPR013087-4
domain Zinc finger C2H2-type 362 - 392 IPR013087-5

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Tethered in the cytoplasm by binding to SUFU (PubMed:10806483)
  • Activation and translocation to the nucleus is promoted by interaction with STK36 (PubMed:10806483)
  • Phosphorylation by ULK3 may promote nuclear localization (PubMed:19878745)
  • Translocation to the nucleus is promoted by interaction with ZIC1 (PubMed:11238441)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
axoneme The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
ciliary base Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area.
ciliary tip Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
GLI-SUFU complex A protein repressing GLI's transcription factor activity when SMO signalling is inactive. Upon ligand binding to the upstream receptor PTC (Patched) GLI dissociates from SUFU and activates transcription of hedgehog-target genes. In mammals it consists of SUFU and one of the GLI family proteins.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

10 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

30 GO annotations of biological process

Name Definition
cerebellar cortex morphogenesis The process in which the anatomical structure of the cranial nerves are generated and organized. The cerebellar cortex is a thin mantle of gray matter that covers the surface of each cerebral hemisphere. It has a characteristic morphology with convolutions (gyri) and crevices (sulci) that have specific functions. Six layers of nerve cells and the nerve pathways that connect them comprise the cerebellar cortex. Together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function.
digestive tract morphogenesis The process in which the anatomical structures of the digestive tract are generated and organized. The digestive tract is the anatomical structure through which food passes and is processed.
dorsal/ventral pattern formation The regionalization process in which the areas along the dorsal/ventral axis are established that will lead to differences in cell differentiation. The dorsal/ventral axis is defined by a line that runs orthogonal to both the anterior/posterior and left/right axes. The dorsal end is defined by the upper or back side of an organism. The ventral end is defined by the lower or front side of an organism.
epidermal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis.
liver regeneration The regrowth of lost or destroyed liver.
lung development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.
negative regulation of canonical Wnt signaling pathway Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of hh target transcription factor activity Any process that decreases the activity of a transcription factor that activates transcription of Hedgehog-target genes in response to Smoothened signaling. In Drosophila, Cubitus interruptus (Ci) is the only identified transcription factor so far in the Hedgehog signaling pathway. In vertebrates members of the Gli protein family are activated by Hedgehog signaling.
notochord regression The developmental process in which the stucture of the notochord is destroyed in an embryo.
osteoblast differentiation The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
pituitary gland development The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands.
positive regulation of cardiac muscle cell proliferation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation.
positive regulation of cell cycle G1/S phase transition Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle.
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of DNA replication Any process that activates or increases the frequency, rate or extent of DNA replication.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of smoothened signaling pathway Any process that activates or increases the frequency, rate or extent of smoothened signaling.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
prostate gland development The process whose specific outcome is the progression of the prostate gland over time, from its formation to the mature structure. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.
proximal/distal pattern formation The regionalization process in which specific areas of cell differentiation are determined along a proximal/distal axis. The proximal/distal axis is defined by a line that runs from main body (proximal end) of an organism outward (distal end).
regulation of hepatocyte proliferation Any process that modulates the frequency, rate or extent of hepatocyte proliferation.
regulation of osteoblast differentiation Any process that modulates the frequency, rate or extent of osteoblast differentiation.
regulation of smoothened signaling pathway Any process that modulates the frequency, rate or extent of smoothened signaling.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to wounding Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism.
smoothened signaling pathway The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened in cerebellar granule cells that contributes to the regulation of proliferation of the cells.
spermatid development The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.
ventral midline development The process whose specific outcome is the progression of the ventral midline over time, from its formation to the mature structure. In protostomes (such as insects, snails and worms) as well as deuterostomes (vertebrates), the midline is an embryonic region that functions in patterning of the adjacent nervous tissue. The ventral midline in insects is a cell population extending along the ventral surface of the embryo and is the region from which cells detach to form the ventrally located nerve cords. In vertebrates, the midline is originally located dorsally. During development, it folds inwards and becomes the ventral part of the dorsally located neural tube and is then called the ventral midline, or floor plate.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MFNSMTPPPI SSYGEPCCLR PLPSQGAPSV GTEGLSGPPF CHQANLMSGP HSYGPARETN
70 80 90 100 110 120
SCTEGPLFSS PRSAVKLTKK RALSISPLSD ASLDLQTVIR TSPSSLVAFI NSRCTSPGGS
130 140 150 160 170 180
YGHLSIGTMS PSLGFPAQMN HQKGPSPSFG VQPCGPHDSA RGGMIPHPQS RGPFPTCQLK
190 200 210 220 230 240
SELDMLVGKC REEPLEGDMS SPNSTGIQDP LLGMLDGRED LEREEKREPE SVYETDCRWD
250 260 270 280 290 300
GCSQEFDSQE QLVHHINSEH IHGERKEFVC HWGGCSRELR PFKAQYMLVV HMRRHTGEKP
310 320 330 340 350 360
HKCTFEGCRK SYSRLENLKT HLRSHTGEKP YMCEHEGCSK AFSNASDRAK HQNRTHSNEK
370 380 390 400 410 420
PYVCKLPGCT KRYTDPSSLR KHVKTVHGPD AHVTKRHRGD GPLPRAPSIS TVEPKREREG
430 440 450 460 470 480
GPIREESRLT VPEGAMKPQP SPGAQSSCSS DHSPAGSAAN TDSGVEMTGN AGGSTEDLSS
490 500 510 520 530 540
LDEGPCIAGT GLSTLRRLEN LRLDQLHQLR PIGTRGLKLP SLSHTGTTVS RRVGPPVSLE
550 560 570 580 590 600
RRSSSSSSIS SAYTVSRRSS LASPFPPGSP PENGASSLPG LMPAQHYLLR ARYASARGGG
610 620 630 640 650 660
TSPTAASSLD RIGGLPMPPW RSRAEYPGYN PNAGVTRRAS DPAQAADRPA PARVQRFKSL
670 680 690 700 710 720
GCVHTPPTVA GGGQNFDPYL PTSVYSPQPP SITENAAMDA RGLQEEPEVG TSMVGSGLNP
730 740 750 760 770 780
YMDFPPTDTL GYGGPEGAAA EPYGARGPGS LPLGPGPPTN YGPNPCPQQA SYPDPTQETW
790 800 810 820 830 840
GEFPSHSGLY PGPKALGGTY SQCPRLEHYG QVQVKPEQGC PVGSDSTGLA PCLNAHPSEG
850 860 870 880 890 900
PPHPQPLFSH YPQPSPPQYL QSGPYTQPPP DYLPSEPRPC LDFDSPTHST GQLKAQLVCN
910 920 930 940 950 960
YVQSQQELLW EGGGREDAPA QEPSYQSPKF LGGSQVSPSR AKAPVNTYGP GFGPNLPNHK
970 980 990 1000 1010 1020
SGSYPTPSPC HENFVVGANR ASHRAAAPPR LLPPLPTCYG PLKVGGTNPS CGHPEVGRLG
1030 1040 1050 1060 1070 1080
GGPALYPPPE GQVCNPLDSL DLDNTQLDFV AILDEPQGLS PPPSHDQRGS SGHTPPPSGP
1090 1100
PNMAVGNMSV LLRSLPGETE FLNSSA