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

2 structures for P28698

Entry ID Method Resolution Chain Position Source
2FI2 NMR - A/B 37-128 PDB
AF-P28698-F1 Predicted AlphaFoldDB

872 variants for P28698

Variant ID(s) Position Change Description Diseaes Association Provenance
rs139675613
CA9720752
2 R>M No ClinGen
ESP
ExAC
gnomAD
rs1334451410
CA407957162
3 P>L No ClinGen
TOPMed
gnomAD
rs772140250
CA9720750
COSM3389478
4 A>V pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1177296257
CA407957133
6 L>V No ClinGen
TOPMed
CA9720748
rs116446481
8 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs116446481
CA407957107
8 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9720747
rs564971103
9 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs947469373
CA407957082
10 D>E No ClinGen
gnomAD
rs564603001
CA9720746
11 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA9720745
rs189189919
11 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1208202595
CA407957059
13 P>T No ClinGen
gnomAD
rs1489505183
CA407957040
14 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 15 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756656050
CA9720744
16 D>N No ClinGen
ExAC
gnomAD
rs116667211
CA9720743
17 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1283661187
CA407956975
20 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs375129468
CA310621677
21 M>I No ClinGen
ESP
TOPMed
CA407956950
rs1240849521
22 V>L No ClinGen
gnomAD
CA9720738
rs762805774
25 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA407956899
rs1369068875
26 D>N No ClinGen
gnomAD
rs1375552175
CA407956880
27 S>C No ClinGen
TOPMed
CA310621671
rs541347787
27 S>P No ClinGen
gnomAD
CA310621670
rs866118220
28 E>* No ClinGen
Ensembl
rs775271307
CA9720737
29 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA407956830
rs1568687029
31 G>D No ClinGen
Ensembl
CA9720736
rs765105254
31 G>S No ClinGen
ExAC
gnomAD
CA407956822
rs759544641
32 E>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 32 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9720735
rs759544641
32 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1271260700
CA407956802
34 A>T No ClinGen
TOPMed
CA407956733
rs774773643
39 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA9720732
rs774773643
39 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA9720731
rs774773643
39 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs11557617
CA9720729
40 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780587844
CA9720728
41 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs756537596
CA9720727
42 A>T No ClinGen
ExAC
gnomAD
CA9720724
rs199500324
44 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199500324
CA9720725
44 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751205786
CA9720723
44 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs199500324
CA9720726
44 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763672659
CA9720722
45 L>P No ClinGen
ExAC
gnomAD
rs758062386
CA9720721
46 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1216552
rs774647244
CA9720720
46 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9720719
rs765116020
47 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs138687476
CA9720716
48 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720717
COSM124651
rs138687476
48 R>Q upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs766738366
CA9720718
48 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA407956629
rs972415067
49 C>R No ClinGen
TOPMed
gnomAD
CA310621607
rs972415067
49 C>S No ClinGen
TOPMed
gnomAD
rs1171137578
CA407956608
50 F>S No ClinGen
gnomAD
rs377275321
CA9720714
51 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_047677
CA9720713
rs3752109
51 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9720711
rs775961914
52 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA9720712
rs377328811
52 Y>H No ClinGen
ExAC
gnomAD
CA407956564
rs770239833
53 E>D No ClinGen
ExAC
gnomAD
rs556914659
CA9720708
54 E>* No ClinGen
1000Genomes
ExAC
gnomAD
rs556914659
CA9720709
54 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA9720706
rs746467676
55 A>D No ClinGen
ExAC
gnomAD
rs757712069
CA9720707
55 A>T No ClinGen
ExAC
gnomAD
CA310621574
rs982019095
56 T>I No ClinGen
TOPMed
rs537231142
CA9720703
58 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs537231142
CA9720702
58 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407956505
rs1568686743
59 Q>* No ClinGen
Ensembl
rs754862542
CA9720701
63 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1392312819
CA407956428
65 L>P No ClinGen
TOPMed
rs766279533
CA9720699
66 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs766279533
CA9720700
66 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9720698
rs370233993
66 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1454904759
CA407956404
67 E>D No ClinGen
gnomAD
rs751649312
CA9720697
67 E>K No ClinGen
ExAC
gnomAD
CA9720695
rs571328177
69 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs763241551
CA9720694
70 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM3743179
CA9720693
rs376418133
70 R>H liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407956361
rs1417175786
71 Q>P No ClinGen
TOPMed
rs372625966
CA310621528
72 W>* No ClinGen
ESP
TOPMed
gnomAD
rs1475701019
CA407956345
72 W>C No ClinGen
gnomAD
CA9720692
rs200472691
74 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759875440
CA9720691
74 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759875440
CA407956328
74 R>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 75 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1197600909
CA407956305
76 E>G No ClinGen
gnomAD
TCGA novel 76 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs963761608
CA310621511
76 E>Q No ClinGen
TOPMed
gnomAD
rs148179129
CA9720687
78 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148179129
CA407956286
78 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9720686
rs143757485
78 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368879889
CA310621498
79 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9720685
rs368879889
79 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407956269
rs1282937925
80 K>Q No ClinGen
gnomAD
CA9720684
rs778696441
81 E>* No ClinGen
ExAC
gnomAD
CA9720683
rs191877920
82 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9720682
rs779742337
83 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA9720681
rs779742337
83 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407956208
rs1250863205
84 L>Q No ClinGen
TOPMed
rs1452812511
CA407956187
86 L>V No ClinGen
TOPMed
TCGA novel 90 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1404823033
CA407956124
91 Q>R No ClinGen
gnomAD
CA407956105
rs756087078
92 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA310621481
rs996380939
93 L>V No ClinGen
TOPMed
rs1344202773
COSM1216551
CA407956090
94 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA407956072
rs763189383
95 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA9720676
rs763189383
95 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA407956060
rs1322977494
96 L>P No ClinGen
TOPMed
CA310621467
rs201987159
97 P>T No ClinGen
Ensembl
CA407956044
rs1181987770
98 P>A No ClinGen
TOPMed
gnomAD
CA9720672
rs777018460
98 P>H No ClinGen
ExAC
gnomAD
rs771328495
CA9720670
99 E>K No ClinGen
ExAC
TOPMed
rs773767270
CA9720667
101 Q>H No ClinGen
ExAC
gnomAD
CA9720666
rs771567748
102 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA407955989
rs771567748
102 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs140640838
CA9720665
103 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_047678
CA9720664
rs3752110
103 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs768313388
CA9720663
105 Q>K No ClinGen
ExAC
gnomAD
CA407955950
rs748933298
106 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs748933298
CA9720662
106 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs1555803282
CA9720659
107 Q>E No ClinGen
Ensembl
CA9720657
rs745791475
108 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs145314624
CA9720658
108 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781205849
CA9720656
110 G>D No ClinGen
ExAC
gnomAD
CA407955903
rs1366047076
110 G>S No ClinGen
gnomAD
CA9720655
rs757271711
111 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA407955880
rs1363235311
112 P>A No ClinGen
TOPMed
rs140308116
CA9720654
112 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720653
rs369603668
113 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9720651
rs754060329
114 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1263081002
CA407955830
116 A>T No ClinGen
TOPMed
gnomAD
rs1031788780
CA310621402
117 A>S No ClinGen
gnomAD
rs1031788780
CA407955816
117 A>T No ClinGen
gnomAD
rs775255906
CA310621398
117 A>V No ClinGen
Ensembl
rs761095154
CA9720649
119 V>L No ClinGen
ExAC
gnomAD
rs773571499
CA9720648
123 R>C Variant assessed as Somatic; 0.0003303 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1405571316
CA407955746
123 R>H No ClinGen
gnomAD
rs1405571316
CA407955743
123 R>L No ClinGen
gnomAD
CA9720646
rs551463835
124 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs144089410
CA9720647
124 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407955731
rs1428441111
125 E>Q No ClinGen
gnomAD
COSM1216555
CA9720644
rs768099434
126 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9720645
rs376604286
126 P>T No ClinGen
ESP
ExAC
gnomAD
rs371956787
CA9720642
127 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142655497
CA9720641
128 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745598986
CA407955683
130 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs3752111
VAR_047679
CA9720639
130 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9720640
rs745598986
130 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1440922880
CA407955671
131 R>K No ClinGen
gnomAD
rs145449797
CA9720638
132 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407955651
rs1265221278
132 W>L No ClinGen
gnomAD
CA407955655
rs1265221278
132 W>S No ClinGen
gnomAD
CA407955578
rs1355699361
133 V>F No ClinGen
gnomAD
CA407955558
rs1387503939
135 V>I No ClinGen
TOPMed
gnomAD
rs928441079
CA310621153
136 Q>P No ClinGen
Ensembl
CA9720617
rs777638367
137 V>M No ClinGen
ExAC
gnomAD
CA9720615
rs749309940
140 Q>R No ClinGen
ExAC
gnomAD
rs780132383
CA9720614
141 E>V No ClinGen
ExAC
gnomAD
CA9720612
rs750692129
142 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs757629894
CA9720610
143 L>I No ClinGen
ExAC
gnomAD
rs751953090
CA9720609
143 L>P No ClinGen
ExAC
gnomAD
rs923386820
CA407955357
145 E>* No ClinGen
TOPMed
gnomAD
rs923386820
CA310621137
145 E>K No ClinGen
TOPMed
gnomAD
CA407955361
rs923386820
145 E>Q No ClinGen
TOPMed
gnomAD
CA407955293
rs1304410738
147 M>I No ClinGen
gnomAD
rs1392667130
CA407955254
149 P>A No ClinGen
TOPMed
gnomAD
CA9720608
rs764447323
150 S>C No ClinGen
ExAC
gnomAD
CA310621134
rs377395522
151 S>N No ClinGen
gnomAD
rs763535444
CA9720607
152 F>S No ClinGen
ExAC
gnomAD
rs1368971073
CA407955139
154 P>R No ClinGen
TOPMed
rs1367941285
CA407955151
154 P>S No ClinGen
gnomAD
CA407955127
rs1412309061
155 L>P No ClinGen
gnomAD
rs200148787
CA9720606
157 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 159 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764883619
CA9720605
160 P>L No ClinGen
ExAC
gnomAD
rs1568685503
CA407955024
160 P>S No ClinGen
Ensembl
rs1417665304
CA407955013
161 P>T No ClinGen
TOPMed
rs1362318804
CA407954991
162 T>S No ClinGen
TOPMed
gnomAD
rs115687020
CA9720604
162 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA310621124
rs866045689
163 P>L No ClinGen
Ensembl
CA407954958
rs914253576
164 E>D No ClinGen
TOPMed
CA407954936
rs1419846667
165 P>R No ClinGen
gnomAD
rs776488214
CA9720603
166 G>V No ClinGen
ExAC
gnomAD
CA9720599
rs748121531
170 P>S No ClinGen
ExAC
gnomAD
CA9720598
rs748121531
170 P>T No ClinGen
ExAC
gnomAD
TCGA novel 171 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9720595
rs746085169
173 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA9720594
rs528914578
174 M>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1317067728
CA407954778
174 M>V No ClinGen
gnomAD
CA9720593
rs757511397
176 E>K No ClinGen
ExAC
gnomAD
CA9720592
rs751818462
177 S>A No ClinGen
ExAC
gnomAD
rs758946222
CA9720590
180 G>D No ClinGen
ExAC
gnomAD
CA310621076
rs966592220
182 Q>* No ClinGen
Ensembl
CA9720589
rs753308724
183 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA407954640
rs1174446309
185 E>A No ClinGen
gnomAD
CA9720587
rs759187784
185 E>D No ClinGen
ExAC
gnomAD
rs753404048
CA407954629
186 E>* No ClinGen
ExAC
gnomAD
CA407954624
rs1200033642
186 E>A No ClinGen
gnomAD
CA9720586
rs753404048
186 E>K No ClinGen
ExAC
gnomAD
CA9720585
rs765890076
187 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs1209491117
CA407954604
188 E>K No ClinGen
TOPMed
CA407954576
rs1206613911
190 T>A No ClinGen
gnomAD
rs368060756
CA9720582
192 D>Y No ClinGen
ESP
ExAC
gnomAD
rs563098655
CA9720581
193 S>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 198 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196910236
CA407953807
199 G>E No ClinGen
gnomAD
CA407953812
rs1275781078
199 G>R No ClinGen
gnomAD
rs889403657
CA310620701
200 P>S No ClinGen
gnomAD
CA407953780
rs1272083429
204 T>S No ClinGen
gnomAD
rs763915703
CA407953775
205 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA9720545
rs763915703
205 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs752739442
CA9720543
206 E>K No ClinGen
ExAC
gnomAD
rs752739442
CA9720544
206 E>Q No ClinGen
ExAC
gnomAD
rs773183315
CA9720540
208 V>I No ClinGen
ExAC
gnomAD
rs1161508694
CA407953750
209 P>R No ClinGen
gnomAD
CA9720539
rs772374717
211 L>F No ClinGen
ExAC
gnomAD
CA407953734
rs1482693134
212 L>P No ClinGen
TOPMed
CA407953727
rs1414127596
213 P>L No ClinGen
TOPMed
gnomAD
rs774828731
CA9720537
215 E>Q No ClinGen
ExAC
gnomAD
CA9720536
rs61731800
216 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407953705
rs1181820957
217 Q>E No ClinGen
gnomAD
CA407953686
rs1440577228
218 R>G No ClinGen
TOPMed
CA9720521
rs200449491
218 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200449491
CA9720522
218 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407953674
rs1203161029
219 C>W No ClinGen
gnomAD
CA310620545
rs903358256
220 G>E No ClinGen
TOPMed
gnomAD
CA9720520
rs767748452
220 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA407953670
rs903358256
220 G>V No ClinGen
TOPMed
gnomAD
rs1269393564
CA407953661
222 V>A No ClinGen
gnomAD
CA9720518
rs545859698
COSM3960649
222 V>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA9720517
rs545859698
222 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA310620530
rs916187886
224 D>E No ClinGen
TOPMed
gnomAD
CA407953645
rs1403305421
225 Q>* No ClinGen
gnomAD
CA9720514
rs746401031
226 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA9720513
rs746401031
226 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1434267396
CA407953627
227 F>L No ClinGen
gnomAD
rs1419412363
CA407953623
228 P>L No ClinGen
gnomAD
TCGA novel 229 H>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs915843148
CA310620513
230 S>G No ClinGen
TOPMed
CA407953608
rs1476576859
230 S>I No ClinGen
TOPMed
gnomAD
CA310620497
rs991418143
232 T>I No ClinGen
Ensembl
rs1265088633
CA407953574
235 E>D No ClinGen
gnomAD
CA407953579
rs1460121296
235 E>Q No ClinGen
gnomAD
rs201976128
CA9720510
236 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758000217
CA9720508
238 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs752492102
CA9720507
239 W>* No ClinGen
ExAC
gnomAD
CA407953543
rs1235077435
240 R>S No ClinGen
Ensembl
CA310620476
rs984566104
240 R>W No ClinGen
TOPMed
gnomAD
CA407953542
rs1165506941
241 E>K No ClinGen
gnomAD
CA9720505
rs754915799
243 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1568684158
CA407953512
245 A>S No ClinGen
Ensembl
CA310620475
rs144703698
246 L>R No ClinGen
ESP
TOPMed
gnomAD
rs1354511054
CA407953496
247 W>C No ClinGen
gnomAD
CA407953485
rs1412084844
249 E>* No ClinGen
gnomAD
rs767697553
CA9720503
250 E>K No ClinGen
ExAC
gnomAD
CA9720502
rs757336742
251 A>G No ClinGen
ExAC
gnomAD
CA407953465
rs1443027660
252 G>W No ClinGen
gnomAD
CA9720500
rs764324165
255 F>L No ClinGen
ExAC
gnomAD
rs775891344
CA9720499
256 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA9720498
rs775891344
256 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9720497
rs765568404
257 P>L No ClinGen
ExAC
gnomAD
CA9720463
rs547298721
258 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs547298721
CA407952757
258 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 259 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777893427
CA9720462
COSM3693169
260 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs939988021
CA310618636
263 L>P No ClinGen
Ensembl
CA310618634
rs757896533
264 G>C No ClinGen
TOPMed
gnomAD
rs757896533
CA407952724
264 G>R No ClinGen
TOPMed
gnomAD
CA407952711
rs1287768028
266 I>V No ClinGen
TOPMed
rs749863240
CA310618633
267 S>F No ClinGen
Ensembl
CA9720457
rs754161627
268 A>E No ClinGen
ExAC
gnomAD
rs374539216
CA9720459
268 A>S No ClinGen
ESP
ExAC
gnomAD
CA9720458
rs374539216
268 A>T No ClinGen
ESP
ExAC
gnomAD
CA310618625
rs867899817
269 G>C No ClinGen
Ensembl
rs1383124294
CA407952694
269 G>D No ClinGen
gnomAD
CA407952692
rs1378167206
270 P>A No ClinGen
gnomAD
CA9720456
rs766773104
270 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9720455
rs761152473
271 G>V No ClinGen
ExAC
gnomAD
CA310618620
rs944512186
272 S>I No ClinGen
TOPMed
gnomAD
rs944512186
CA407952678
272 S>T No ClinGen
TOPMed
gnomAD
CA310618617
rs971207662
274 S>I No ClinGen
Ensembl
rs1210087551
CA407952669
274 S>R No ClinGen
TOPMed
rs767052126
CA9720453
274 S>R No ClinGen
ExAC
gnomAD
rs1600098011
CA407952659
275 P>R No ClinGen
Ensembl
CA407952663
rs1269083545
275 P>T No ClinGen
TOPMed
CA407952657
rs1427672909
276 H>N No ClinGen
gnomAD
rs1600097993
CA407952653
276 H>P No ClinGen
Ensembl
TCGA novel 279 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773932356
CA9720451
279 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA407952620
rs768378644
281 W>* No ClinGen
ExAC
gnomAD
CA9720450
rs768378644
281 W>L No ClinGen
ExAC
gnomAD
CA407952612
rs1600097945
282 D>G No ClinGen
Ensembl
rs762731329
CA9720449
283 L>F No ClinGen
ExAC
gnomAD
CA9720448
rs775401765
284 G>R No ClinGen
ExAC
gnomAD
CA407952603
rs775401765
284 G>S No ClinGen
ExAC
gnomAD
rs769769400
CA9720447
284 G>V No ClinGen
ExAC
gnomAD
CA9720446
rs745811308
285 M>L No ClinGen
ExAC
gnomAD
CA407952597
rs1412052152
285 M>T No ClinGen
TOPMed
CA407952590
rs780923513
286 A>P No ClinGen
ExAC
gnomAD
CA9720445
rs780923513
286 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs371153551
CA310618604
289 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs371153551
CA407952570
289 S>F No ClinGen
ESP
TOPMed
gnomAD
CA9720444
rs144933302
290 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9720443
rs144933302
290 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9720441
rs755164782
291 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs755164782
CA407952564
291 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs115308072
CA9720439
RCV000891254
292 I>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA407952541
rs1600097840
294 S>* No ClinGen
Ensembl
CA407952543
rs1371130211
294 S>T No ClinGen
gnomAD
rs1449758705
CA407952535
295 P>S No ClinGen
gnomAD
CA407952537
rs1449758705
295 P>T No ClinGen
gnomAD
rs750811133
CA9720436
296 S>T No ClinGen
ExAC
gnomAD
CA9720435
rs767860391
297 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767860391
CA407952523
297 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs767860391
CA310618594
297 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA407952516
rs1311146134
298 E>D No ClinGen
TOPMed
rs1256184025
CA407952511
299 G>D No ClinGen
gnomAD
rs762409589
CA9720434
300 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA407952504
rs762409589
300 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 301 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs958860070
CA310618587
302 A>G No ClinGen
TOPMed
gnomAD
CA310618588
rs992988735
302 A>P No ClinGen
TOPMed
rs958860070
CA407952492
302 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA310618585
rs867442384
303 H>Q No ClinGen
Ensembl
CA310618584
rs957313200
306 L>M No ClinGen
Ensembl
CA9720431
rs138151080
307 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775348375
CA9720430
307 L>P No ClinGen
ExAC
gnomAD
rs769574079
CA9720429
308 P>A No ClinGen
ExAC
gnomAD
rs531744684
CA310618577
309 S>N No ClinGen
1000Genomes
TCGA novel 310 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759195794
CA9720427
310 D>V No ClinGen
ExAC
gnomAD
rs146379468
CA9720426
311 L>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1368545755
CA407952434
313 S>R No ClinGen
gnomAD
CA9720424
rs114386645
313 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1254593858
CA407952425
314 E>* No ClinGen
TOPMed
gnomAD
CA9720421
rs372763261
314 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1254593858
CA407952427
314 E>K No ClinGen
TOPMed
gnomAD
CA407952417
rs1490283124
315 Q>R No ClinGen
gnomAD
CA407952412
rs1168124649
316 D>N No ClinGen
TOPMed
CA9720420
rs780185814
317 P>L No ClinGen
ExAC
gnomAD
rs1230240552
CA407952402
317 P>S No ClinGen
gnomAD
TCGA novel 318 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746176499
CA9720419
318 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs746176499
CA9720418
318 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs781647436
CA9720417
319 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs757679192
CA9720416
320 E>K No ClinGen
ExAC
gnomAD
rs1600097570
CA407952378
321 D>V No ClinGen
Ensembl
CA407952379
rs1410305517
321 D>Y No ClinGen
gnomAD
rs752165102
CA9720415
322 P>A No ClinGen
ExAC
gnomAD
CA407952372
rs752165102
322 P>S No ClinGen
ExAC
gnomAD
CA9720413
rs560478847
324 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369616031
CA9720411
324 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs560478847
CA9720412
324 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140195199
CA9720409
325 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140195199
CA407952355
325 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1414902332
CA407952342
327 G>V No ClinGen
TOPMed
gnomAD
CA9720406
rs148231126
328 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148231126
CA9720407
328 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766246594
CA9720408
328 P>T No ClinGen
ExAC
gnomAD
rs374145510
CA9720404
331 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs4756
CA9720405
VAR_014826
331 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA407952319
rs1283789791
332 T>N No ClinGen
gnomAD
rs1452472397
CA407952320
332 T>S No ClinGen
gnomAD
rs769872401
CA407952309
334 R>C No ClinGen
ExAC
gnomAD
rs1289024503
CA407952308
334 R>H No ClinGen
gnomAD
rs769872401
CA9720402
334 R>S No ClinGen
ExAC
gnomAD
CA9720400
rs370089804
336 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720401
rs370089804
336 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1272917091
CA407952288
337 S>C No ClinGen
TOPMed
gnomAD
CA407952287
rs1272917091
337 S>F No ClinGen
TOPMed
gnomAD
CA9720397
rs778365813
338 P>A No ClinGen
ExAC
gnomAD
CA310618545
COSM1397358
rs908489063
338 P>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA9720398
rs778365813
338 P>T No ClinGen
ExAC
gnomAD
rs752216868
CA9720395
339 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs752216868
CA407952279
339 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA407952280
rs752216868
339 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1171541312
CA407952281
339 R>W No ClinGen
gnomAD
CA407952273
rs1339225416
340 G>C No ClinGen
TOPMed
TCGA novel 340 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs575404835
CA407952266
341 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555856319
CA9720392
341 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs555856319
CA9720393
341 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA9720394
rs575404835
341 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9720389
rs773008446
342 S>R No ClinGen
ExAC
gnomAD
rs1478548117
CA407952254
343 R>W No ClinGen
gnomAD
CA310618534
rs915754284
345 R>C No ClinGen
gnomAD
CA407952237
rs1268866734
345 R>H No ClinGen
gnomAD
CA9720386
rs146251309
346 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 346 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1217098184
CA407952216
348 T>A No ClinGen
TOPMed
CA310618528
rs925673573
348 T>S No ClinGen
TOPMed
gnomAD
CA407952209
rs1568677703
349 G>R No ClinGen
Ensembl
CA310618514
rs967028196
351 G>A No ClinGen
gnomAD
CA310618515
rs977142237
351 G>R No ClinGen
gnomAD
CA407952184
rs1320718763
352 V>L No ClinGen
gnomAD
CA407952165
rs1464362987
354 R>T No ClinGen
TOPMed
CA9720376
rs778314996
355 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA9720377
rs747327387
355 G>S No ClinGen
ExAC
gnomAD
rs772677631
CA407952152
356 G>C No ClinGen
ExAC
gnomAD
rs772677631
CA9720375
356 G>S No ClinGen
ExAC
gnomAD
TCGA novel 357 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407952142
rs1488904618
357 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs748715024
CA9720374
358 C>* No ClinGen
ExAC
gnomAD
rs1183112803
CA407952135
358 C>R No ClinGen
gnomAD
rs533880998
CA9720373
360 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9720372
rs754586769
361 C>S No ClinGen
ExAC
gnomAD
CA407952103
rs1272092292
362 G>R No ClinGen
gnomAD
CA9720370
CA407952088
rs779702563
363 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA310618502
rs1029198993
363 K>Q No ClinGen
TOPMed
rs200660383
CA9720371
363 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755791522
CA407952050
365 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1244722945
CA407952034
367 Q>K No ClinGen
gnomAD
CA9720368
rs750184537
368 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1304009000
CA407951999
369 S>G No ClinGen
gnomAD
CA407951985
rs1433856825
369 S>R No ClinGen
TOPMed
CA407951933
rs751563614
373 R>G No ClinGen
ExAC
gnomAD
rs1367721700
CA407951930
373 R>K No ClinGen
TOPMed
rs763942107
CA9720363
375 Q>E No ClinGen
ExAC
gnomAD
CA407951875
rs1163205106
CA407951877
376 K>N No ClinGen
TOPMed
gnomAD
rs1422247669
CA407951863
377 I>S No ClinGen
gnomAD
CA407951854
rs1416062233
378 H>Y No ClinGen
gnomAD
TCGA novel 379 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9720362
rs759600256
379 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA407951833
rs759600256
379 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1036842671
CA310618487
380 G>D No ClinGen
Ensembl
rs1286094326
CA407951818
381 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9720361
rs371479592
382 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720360
rs554541283
383 P>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 384 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9720359
rs761020878
384 F>S No ClinGen
ExAC
gnomAD
rs368017228
CA9720356
386 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368017228
CA9720357
386 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779412978
CA9720355
386 C>Y No ClinGen
ExAC
gnomAD
rs1373302431
CA407951746
387 S>G No ClinGen
gnomAD
rs748787144
CA9720353
388 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA407951713
rs1201762253
389 C>R No ClinGen
TOPMed
TCGA novel 393 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310618472
rs1046396044
394 S>G No ClinGen
TOPMed
CA407951617
rs1301509948
396 S>C No ClinGen
Ensembl
CA9720347
rs949981061
397 S>L No ClinGen
Ensembl
CA9720348
rs949981061
397 S>W No ClinGen
Ensembl
CA407951574
rs1409786573
398 H>Q No ClinGen
gnomAD
CA9720344
rs750131237
399 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs756977306
CA9720342
400 L>R No ClinGen
ExAC
CA9720341
rs751323279
401 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1487340060
CA407951543
402 H>Y No ClinGen
gnomAD
CA9720338
rs762829313
404 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA407951500
rs1055653352
405 T>K No ClinGen
TOPMed
gnomAD
CA310618462
rs1055653352
405 T>M No ClinGen
TOPMed
gnomAD
CA407951489
rs1354146148
406 H>R No ClinGen
TOPMed
rs1281166005
CA407951491
406 H>Y No ClinGen
TOPMed
CA407951471
rs766615077
407 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9720336
rs766615077
407 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA310618459
rs866276822
408 E>D No ClinGen
gnomAD
rs1385418926
CA407951463
408 E>K No ClinGen
TOPMed
gnomAD
rs1385418926
CA407951461
408 E>Q No ClinGen
TOPMed
gnomAD
rs552709564
CA9720335
410 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs925778333
CA310618457
410 R>Q No ClinGen
Ensembl
CA407951429
rs552709564
410 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9720333
rs772430748
411 P>S No ClinGen
ExAC
gnomAD
rs772430748
CA407951422
411 P>T No ClinGen
ExAC
gnomAD
CA407951403
rs1161389310
412 F>S No ClinGen
gnomAD
rs374399017
CA9720332
413 V>A No ClinGen
ESP
ExAC
gnomAD
rs1568677106
CA407951396
413 V>L No ClinGen
Ensembl
CA407951376
rs1482746116
414 C>F No ClinGen
TOPMed
rs1197956553
CA407951383
414 C>R No ClinGen
gnomAD
rs149020787
CA9720330
415 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720328
rs775048815
417 C>S No ClinGen
ExAC
gnomAD
CA9720327
rs201061358
417 C>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs911568599
CA310618446
419 Q>E No ClinGen
Ensembl
CA9720326
rs745385505
419 Q>P No ClinGen
ExAC
gnomAD
rs987090952
CA310618443
420 G>D No ClinGen
TOPMed
rs780763181
CA9720325
420 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1231644770
CA407951288
421 F>L No ClinGen
TOPMed
gnomAD
CA407951299
rs1255897731
421 F>L No ClinGen
gnomAD
CA9720324
rs756925767
422 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA310618440
rs756925767
422 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1314339663
CA407951284
422 V>L No ClinGen
gnomAD
CA407951274
rs1363270477
423 R>C No ClinGen
gnomAD
CA407951273
rs1322723713
423 R>H No ClinGen
gnomAD
TCGA novel 423 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1363270477
CA407951278
423 R>S No ClinGen
gnomAD
rs546958807
CA407951253
424 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA9720321
rs758334010
425 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA9720320
rs752636714
426 R>L No ClinGen
ExAC
gnomAD
CA9720319
rs371879365
428 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720318
rs756199355
428 E>G No ClinGen
ExAC
gnomAD
TCGA novel 428 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310618435
rs1057158311
429 E>K No ClinGen
TOPMed
rs761975366
CA9720316
430 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1338695255
CA407951190
430 H>R No ClinGen
TOPMed
CA9720317
rs750546743
430 H>Y No ClinGen
ExAC
gnomAD
CA407951178
rs1464972034
431 R>W No ClinGen
TOPMed
gnomAD
rs1484490981
CA407951150
433 V>L No ClinGen
TOPMed
gnomAD
rs1257012738
CA407951136
434 H>R No ClinGen
gnomAD
CA9720312
rs763508871
435 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA407951113
rs1229353588
436 G>D No ClinGen
gnomAD
CA9720310
rs770298064
436 G>R No ClinGen
ExAC
gnomAD
CA9720309
rs745330572
437 E>* No ClinGen
ExAC
gnomAD
rs1029640959
CA310618425
438 Q>R No ClinGen
Ensembl
CA9720307
rs368717285
439 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720306
rs746690891
439 P>L No ClinGen
ExAC
gnomAD
rs368717285
CA9720308
439 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777612039
CA310618422
440 F>I No ClinGen
ExAC
TOPMed
gnomAD
rs1428839622
CA407951043
440 F>L No ClinGen
gnomAD
CA9720305
rs777612039
440 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1388035801
CA407951031
441 R>C No ClinGen
gnomAD
VAR_047680
CA9720304
rs2229255
441 R>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747981728
CA9720303
442 C>F No ClinGen
ExAC
gnomAD
CA407951013
rs747981728
442 C>S No ClinGen
ExAC
gnomAD
rs747981728
CA407951010
442 C>Y No ClinGen
ExAC
gnomAD
rs1184761696
CA407950993
443 A>S No ClinGen
gnomAD
CA310618417
rs918885391
445 C>S No ClinGen
TOPMed
CA407950963
rs1257443350
445 C>S No ClinGen
gnomAD
CA407950955
rs918885391
445 C>Y No ClinGen
TOPMed
TCGA novel 446 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774236802
CA9720301
446 G>S No ClinGen
ExAC
gnomAD
CA407950914
rs1482292533
447 Q>H No ClinGen
gnomAD
rs750495390
CA9720300
448 S>T No ClinGen
ExAC
gnomAD
rs973356891
CA407950870
450 R>L No ClinGen
TOPMed
gnomAD
CA310618413
rs973356891
450 R>Q No ClinGen
TOPMed
gnomAD
rs767750607
CA9720299
450 R>W No ClinGen
ExAC
gnomAD
rs751793759
CA9720297
454 N>H No ClinGen
ExAC
gnomAD
rs1409091971
CA407950752
455 L>P No ClinGen
TOPMed
gnomAD
rs1293850350
CA407950755
455 L>V No ClinGen
gnomAD
rs1368472723
CA407950738
456 L>M No ClinGen
TOPMed
gnomAD
CA9720296
rs764379215
456 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA9720295
rs763167545
457 Q>R No ClinGen
ExAC
gnomAD
CA310618410
rs561645926
458 H>P No ClinGen
1000Genomes
gnomAD
rs1368490972
CA407950699
458 H>Q No ClinGen
TOPMed
gnomAD
CA407950710
rs1160991104
458 H>Y No ClinGen
gnomAD
CA9720293
rs765692330
459 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA9720292
rs760075269
460 R>H No ClinGen
ExAC
gnomAD
CA9720290
rs770405262
462 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA407950628
rs1267509112
463 G>D No ClinGen
gnomAD
CA9720289
rs760372307
463 G>S No ClinGen
ExAC
gnomAD
CA407950594
rs1227721073
465 P>S No ClinGen
gnomAD
CA9720284
rs370449872
466 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370449872
CA9720285
466 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9720286
rs772674910
466 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs781413469
CA9720280
467 G>S No ClinGen
ExAC
gnomAD
CA310618383
rs894418953
467 G>V No ClinGen
Ensembl
rs1463025823
CA407950520
468 P>S No ClinGen
TOPMed
rs935907450
CA310618377
469 G>D No ClinGen
Ensembl
CA9720279
rs757215553
469 G>S No ClinGen
ExAC
gnomAD
rs1334316787
CA407950490
470 A>P No ClinGen
TOPMed
gnomAD
rs75984033
CA310618374
471 K>N No ClinGen
ExAC
gnomAD
CA407949533
rs1428757109
472 P>A No ClinGen
TOPMed
CA9720277
rs777807962
472 P>L No ClinGen
ExAC
gnomAD
CA407949513
rs1456172769
473 P>A No ClinGen
TOPMed
gnomAD
rs1477379214
CA407949487
474 A>S No ClinGen
TOPMed
TCGA novel 475 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758676175
CA9720274
476 P>L No ClinGen
ExAC
gnomAD
CA407949455
rs1408260949
476 P>S No ClinGen
TOPMed
rs1000070536
CA310618369
477 G>S No ClinGen
TOPMed
gnomAD
CA9720273
rs753028250
478 A>V No ClinGen
ExAC
gnomAD
rs765638825
CA9720272
479 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1201283619
CA407949403
479 P>S No ClinGen
gnomAD
rs754410617
CA310618367
480 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754410617
CA9720270
480 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1327046479
CA407949360
481 P>L No ClinGen
gnomAD
rs1224224291
CA407949349
482 P>R No ClinGen
gnomAD
CA9720269
rs766916808
483 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA310618364
rs911640755
485 F>L No ClinGen
TOPMed
CA310618362
rs1010540470
487 C>* No ClinGen
TOPMed
CA407949246
rs1227036960
489 E>D No ClinGen
TOPMed
rs772804703
CA9720267
489 E>G No ClinGen
ExAC
gnomAD
rs1371266289
CA407949256
489 E>K No ClinGen
TOPMed
gnomAD
CA310618360
rs867776677
490 C>Y No ClinGen
gnomAD
CA407949228
rs1390134849
491 R>H No ClinGen
TOPMed
gnomAD
CA407949226
rs1390134849
491 R>P No ClinGen
TOPMed
gnomAD
rs987121941
CA310618357
492 E>G No ClinGen
gnomAD
rs761601809
CA9720265
493 S>R No ClinGen
ExAC
gnomAD
CA310618353
rs557389571
494 F>L No ClinGen
gnomAD
CA407949199
rs1454920470
495 A>P No ClinGen
gnomAD
CA407949195
rs1389747611
495 A>V No ClinGen
TOPMed
gnomAD
CA310618352
rs921585201
496 R>Q No ClinGen
Ensembl
CA9720264
rs190254725
496 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407949191
rs974082363
497 R>C No ClinGen
TOPMed
gnomAD
rs974082363
CA310618349
497 R>G No ClinGen
TOPMed
gnomAD
CA407949185
rs1216418539
497 R>L No ClinGen
gnomAD
CA407949190
rs974082363
497 R>S No ClinGen
TOPMed
gnomAD
CA407949182
rs1441721843
498 A>T No ClinGen
gnomAD
rs576518777
CA407949157
CA310618346
499 V>L No ClinGen
1000Genomes
TOPMed
CA310618343
rs1015134616
502 E>K No ClinGen
TOPMed
gnomAD
rs1015134616
CA310618342
502 E>Q No ClinGen
TOPMed
gnomAD
rs905991229
CA407949045
504 Q>H No ClinGen
TOPMed
CA9720261
rs201388932
COSM3693167
504 Q>L large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407949059
rs201388932
504 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1366782156
CA407949031
505 A>E No ClinGen
TOPMed
gnomAD
rs747018178
CA9720259
506 V>G No ClinGen
ExAC
gnomAD
rs1436501897
CA407949022
506 V>I No ClinGen
TOPMed
gnomAD
CA407948970
rs1336634038
508 T>A No ClinGen
gnomAD
CA9720258
rs777948499
508 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA407948964
rs777948499
508 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs752975044
CA9720256
509 G>D No ClinGen
ExAC
gnomAD
rs758525901
CA9720257
509 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs758525901
CA310618331
509 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA310618327
rs868496815
510 D>E No ClinGen
Ensembl
CA407948942
rs1420342304
510 D>N No ClinGen
gnomAD
rs867580646
CA310618325
511 K>Q No ClinGen
Ensembl
CA9720255
rs537448494
512 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9720254
rs537448494
512 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1222682996
CA407948842
514 G>A No ClinGen
TOPMed
rs150590904
CA9720253
514 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1481757534
CA407948811
515 C>W No ClinGen
TOPMed
CA407948771
rs1251205312
518 C>G No ClinGen
TOPMed
rs1251205312
CA407948774
518 C>S No ClinGen
TOPMed
rs761279473
CA9720251
519 G>S No ClinGen
ExAC
rs749873621
CA407948747
520 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA9720250
rs749873621
520 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs767108912
CA9720249
521 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9720248
TCGA novel
rs368446779
522 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
NCI-TCGA
CA9720247
rs774076335
525 R>C No ClinGen
ExAC
gnomAD
CA407948658
rs1415864177
528 L>M No ClinGen
gnomAD
CA407948641
rs1306506926
530 Q>* No ClinGen
gnomAD
CA407948631
rs1431912713
530 Q>H No ClinGen
gnomAD
TCGA novel 531 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775384356
CA9720244
532 R>W No ClinGen
ExAC
gnomAD
CA407948597
rs1415973053
533 R>C No ClinGen
gnomAD
rs1190025259
CA407948582
534 V>A No ClinGen
gnomAD
rs1250868888
CA407948570
535 H>R No ClinGen
gnomAD
rs745866341
CA407948552
536 S>R No ClinGen
ExAC
gnomAD
rs1378885026
CA407948555
536 S>T No ClinGen
TOPMed
gnomAD
CA407948532
rs773152561
538 E>* No ClinGen
ExAC
TOPMed
gnomAD
COSM3389477
rs772207279
CA9720240
538 E>D pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9720241
rs773152561
538 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs773152561
CA407948534
538 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1234462262
CA407948517
539 R>L No ClinGen
gnomAD
CA407948520
rs1234462262
539 R>Q No ClinGen
gnomAD
CA9720239
rs748231804
539 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1286886180
CA407948511
540 P>S No ClinGen
gnomAD
rs1405504379
CA407948490
541 F>L No ClinGen
gnomAD
rs1412056428
CA407948499
541 F>V No ClinGen
gnomAD
rs1374403450
CA407948487
542 A>T No ClinGen
gnomAD
CA407948467
rs1434536423
543 C>S No ClinGen
gnomAD
rs1434536423
CA407948469
543 C>Y No ClinGen
gnomAD
CA407948444
rs1461934076
545 E>* No ClinGen
TOPMed
gnomAD
rs749614734
CA9720236
545 E>A No ClinGen
ExAC
gnomAD
rs780511000
CA407948439
545 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA407948447
rs1461934076
545 E>K No ClinGen
TOPMed
gnomAD
rs200689045
CA407948426
546 C>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs945867005
CA407948417
547 G>D No ClinGen
TOPMed
gnomAD
CA9720233
rs751000908
547 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA407948420
rs751000908
547 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA310618284
rs945867005
547 G>V No ClinGen
TOPMed
gnomAD
CA407948409
rs1444968955
548 Q>E No ClinGen
TOPMed
CA407948401
rs1487272254
548 Q>H No ClinGen
gnomAD
TCGA novel 550 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266763065
CA407948341
553 R>H No ClinGen
gnomAD
CA407948333
rs1317898246
554 S>A No ClinGen
TOPMed
gnomAD
CA9720231
rs756765711
555 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 557 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1452321546
CA407948291
557 T>M No ClinGen
gnomAD
rs1224028574
CA407948300
557 T>P No ClinGen
gnomAD
CA9720229
rs763797903
558 Q>R No ClinGen
ExAC
gnomAD
rs1318467552
CA407948263
559 H>Q No ClinGen
gnomAD
CA407948255
rs1455247406
560 R>P No ClinGen
TOPMed
gnomAD
rs1455247406
CA407948257
560 R>Q No ClinGen
TOPMed
gnomAD
rs1283610346
COSM3836060
CA407948258
560 R>W Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs762733442
CA9720228
561 R>L No ClinGen
ExAC
gnomAD
rs775124753
CA9720227
562 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA407948223
rs1431133879
563 H>Y No ClinGen
gnomAD
CA407948187
rs1464058025
566 E>K No ClinGen
TOPMed
gnomAD
CA407948168
rs1295672785
567 R>P No ClinGen
TOPMed
CA407948156
rs1207438243
569 F>Y No ClinGen
gnomAD
rs1486469107
CA407948145
570 A>P No ClinGen
gnomAD
rs1308711804
CA407948141
570 A>V No ClinGen
TOPMed
CA407948129
rs759387890
571 C>F No ClinGen
ExAC
gnomAD
CA9720226
rs765136943
571 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA9720225
rs759387890
571 C>S No ClinGen
ExAC
gnomAD
CA407948121
rs1304461313
572 A>P No ClinGen
gnomAD
rs953021399
CA310618264
573 E>D No ClinGen
TOPMed
rs1363155852
CA407948111
573 E>K No ClinGen
gnomAD
rs1362928544
CA407948035
576 K>M No ClinGen
gnomAD
CA9720222
rs770870517
577 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs1051473897
CA310618252
577 A>P No ClinGen
Ensembl
CA407948008
rs1245951001
578 F>L No ClinGen
TOPMed
CA407947985
rs867068824
579 R>C No ClinGen
TOPMed
gnomAD
CA310618246
rs921598469
579 R>H No ClinGen
TOPMed
gnomAD
rs921598469
CA407947976
579 R>L No ClinGen
TOPMed
gnomAD
rs867068824
CA310618248
579 R>S No ClinGen
TOPMed
gnomAD
rs1420342437
CA407947974
580 Q>K No ClinGen
TOPMed
CA9720220
rs774447843
581 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748178821
CA9720221
581 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs768838421
CA407947931
582 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs768838421
CA9720219
582 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA407947938
rs1194662859
582 P>S No ClinGen
gnomAD
rs868256791
CA310618235
583 T>K No ClinGen
Ensembl
CA407947928
rs1199188907
583 T>P No ClinGen
gnomAD
CA9720215
rs377542744
585 T>M No ClinGen
ESP
ExAC
gnomAD
rs546748820
CA9720214
586 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA310618229
rs757866907
586 Q>H No ClinGen
ExAC
gnomAD
CA310618233
rs867981151
586 Q>R No ClinGen
gnomAD
CA9720211
rs763744696
588 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407947807
rs1412782959
588 L>R No ClinGen
TOPMed
gnomAD
CA407947792
rs1357165162
589 R>C No ClinGen
gnomAD
rs536663646
CA407947782
590 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9720210
rs536663646
CA9720209
590 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407947742
rs1169205767
592 T>K No ClinGen
gnomAD
rs1462063492
CA407947704
594 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs928075899
CA310618219
595 K>N No ClinGen
Ensembl
CA9720207
rs551259916
596 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407947670
rs1367313880
596 P>T No ClinGen
TOPMed
gnomAD
rs766265707
CA9720205
597 F>L No ClinGen
ExAC
gnomAD
CA310618213
rs531104540
597 F>S No ClinGen
1000Genomes
rs774396292
CA9720203
598 A>T No ClinGen
ExAC
gnomAD
rs1210072340
CA407947591
599 C>Y No ClinGen
gnomAD
rs1196541366
CA407947576
600 P>S No ClinGen
gnomAD
CA9720200
rs775719540
601 E>D No ClinGen
ExAC
gnomAD
rs374236870
CA310618207
601 E>K No ClinGen
gnomAD
TCGA novel 602 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1486968701
CA407947515
603 G>V No ClinGen
TOPMed
TCGA novel 605 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9720199
rs769927733
606 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1408980170
CA407947431
607 S>G No ClinGen
gnomAD
CA407947434
rs1408980170
607 S>R No ClinGen
gnomAD
CA407947429
rs1333711025
607 S>T No ClinGen
gnomAD
rs1330481305
CA407947394
609 R>C No ClinGen
gnomAD
CA310618204
rs551541266
610 L>F No ClinGen
1000Genomes
CA407947379
rs1600095455
610 L>P No ClinGen
Ensembl
TCGA novel 610 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771540653
CA9720194
612 L>F No ClinGen
ExAC
TOPMed
rs1346668109
CA407947346
612 L>R No ClinGen
TOPMed
rs771540653
CA407947355
612 L>V No ClinGen
ExAC
TOPMed
rs747576578
CA9720193
613 T>R No ClinGen
ExAC
gnomAD
CA407947338
rs1433839097
613 T>S No ClinGen
TOPMed
CA9720192
rs777417118
614 R>H No ClinGen
ExAC
gnomAD
rs147818011
CA9720190
615 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9720188
rs754620221
615 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA9720189
rs147818011
615 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753601459
CA9720187
616 Q>L No ClinGen
ExAC
gnomAD
TCGA novel 617 R>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407947285
rs1215635003
617 R>G No ClinGen
gnomAD
CA407947254
rs1224194823
618 T>A No ClinGen
TOPMed
rs1600095365
CA407947249
618 T>K No ClinGen
Ensembl
CA9720185
rs201824464
620 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1227642967
CA407947208
620 T>I No ClinGen
TOPMed
gnomAD
CA9720184
rs539910022
621 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA9720182
rs763037312
622 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs373694789
CA9720181
623 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720179
rs759724567
624 P>S No ClinGen
ExAC
gnomAD
rs777121998
CA9720177
626 H>Q No ClinGen
ExAC
gnomAD
rs1320477604
CA407947083
626 H>R No ClinGen
gnomAD
rs944207806
CA310618143
627 C>W No ClinGen
TOPMed
gnomAD
rs1159482628
CA407947040
628 G>S No ClinGen
gnomAD
CA407947014
rs1568674618
629 E>A No ClinGen
Ensembl
TCGA novel 631 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1032792244
CA310618140
631 G>S No ClinGen
TOPMed
CA310618138
rs1000873365
633 G>C No ClinGen
TOPMed
CA407946946
rs1000873365
633 G>S No ClinGen
TOPMed
CA9720174
rs150630080
635 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs921566699
CA310618130
636 Q>H No ClinGen
TOPMed
CA9720173
rs772478991
636 Q>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 637 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600095200
CA407946877
637 V>G No ClinGen
Ensembl
CA407946885
rs1335157664
637 V>I No ClinGen
TOPMed
rs1020145886
CA310618125
639 R>Q No ClinGen
gnomAD
rs778328394
CA9720171
639 R>W No ClinGen
ExAC
gnomAD
CA9720169
rs749002171
641 T>I No ClinGen
ExAC
gnomAD
CA9720167
rs115386056
642 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407946806
rs1452287602
643 H>Q No ClinGen
Ensembl
CA407946813
rs1429295811
643 H>Y No ClinGen
TOPMed
gnomAD
rs1568674438
CA407946791
644 Q>H No ClinGen
Ensembl
CA310618101
rs200245594
644 Q>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA9720165
rs750237323
645 R>L No ClinGen
ExAC
gnomAD
rs575997059
CA407946765
646 I>M No ClinGen
TOPMed
gnomAD
CA407946763
rs1270958581
647 H>D No ClinGen
TOPMed
CA407946760
rs1270958581
647 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1263961330
CA407946743
648 T>R No ClinGen
gnomAD
rs757179039
CA9720163
649 G>D No ClinGen
ExAC
gnomAD
rs575595806
CA310618084
649 G>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA407946728
rs1234993858
650 E>* No ClinGen
TOPMed
rs201221836
CA9720161
651 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407946711
rs1474423555
651 R>W No ClinGen
gnomAD
rs1385548824
CA407946691
652 P>L No ClinGen
TOPMed
rs759799575
CA407946643
655 C>G No ClinGen
ExAC
rs759799575
CA9720160
655 C>R No ClinGen
ExAC
rs148499782
CA9720158
655 C>S No ClinGen
ESP
ExAC
rs148499782
CA9720159
655 C>Y No ClinGen
ESP
ExAC
CA407946625
rs1485224095
656 P>A No ClinGen
TOPMed
gnomAD
CA9720157
rs146313965
657 E>D No ClinGen
ESP
ExAC
CA9720156
rs142226130
658 C>R No ClinGen
ESP
ExAC
gnomAD
rs374723544
CA407946560
659 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374723544
CA9720154
659 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768999008
CA9720155
659 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA407946549
rs1212285327
660 Q>* No ClinGen
gnomAD
CA9720153
rs773922361
663 R>Q No ClinGen
ExAC
gnomAD
rs767981017
CA9720152
664 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA407946457
rs1233234104
665 H>Q No ClinGen
TOPMed
gnomAD
CA407946464
rs1435617989
665 H>R No ClinGen
TOPMed
gnomAD
rs748787893
CA9720150
666 A>G No ClinGen
ExAC
gnomAD
rs1370182069
CA407946449
666 A>S No ClinGen
gnomAD
CA407946428
rs1411742559
667 N>S No ClinGen
gnomAD
rs572915012
CA9720149
669 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs755736289
CA407946387
669 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs755736289
CA9720148
669 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs553441367
CA310618053
670 Q>E No ClinGen
1000Genomes
CA9720147
rs745697638
671 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA9720146
rs757233680
671 H>Q No ClinGen
ExAC
gnomAD
CA310618049
rs745697638
671 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA407946311
rs1201926384
672 R>L No ClinGen
gnomAD
CA407946316
rs1201926384
672 R>Q No ClinGen
gnomAD
CA9720144
rs375549388
672 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs900246136
CA310618038
673 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs375748545
CA9720142
673 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9720141
rs755167458
676 T>M No ClinGen
ExAC
gnomAD
rs1037796858
CA310618033
677 G>D No ClinGen
Ensembl
rs1372019119
CA407946214
677 G>S No ClinGen
TOPMed
rs202068188
CA9720137
681 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA310618028
rs181482460
681 Y>F No ClinGen
1000Genomes
TOPMed
gnomAD
rs1469219256
CA407946113
681 Y>H No ClinGen
TOPMed
rs374564603
CA9720136
682 A>T No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs1475416986
CA407946034
684 P>A No ClinGen
gnomAD
CA9720134
rs762382995
684 P>L No ClinGen
ExAC
gnomAD
CA310618018
COSM1002792
rs756827802
685 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA9720133
rs756827802
685 E>Q No ClinGen
ExAC
rs1481398549
CA407945978
686 C>Y No ClinGen
gnomAD
rs769188539
CA407945945
687 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA9720131
rs769188539
687 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407945954
rs1232993943
687 G>R No ClinGen
TOPMed
gnomAD
rs1232993943
CA407945958
687 G>S No ClinGen
TOPMed
gnomAD
rs748840906
CA9720130
689 A>T No ClinGen
ExAC
CA407945861
rs1316729859
691 R>C No ClinGen
TOPMed
gnomAD
rs1316729859
CA407945862
691 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 692 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9720128
rs769461846
692 Q>R No ClinGen
ExAC
gnomAD
CA407945778
rs745467813
693 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9720127
rs745467813
693 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA407945783
rs745467813
693 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1223356883
CA407945800
693 R>W No ClinGen
TOPMed
rs1027379423
CA310618000
695 T>K No ClinGen
TOPMed
gnomAD
rs1327883861
CA407945661
696 L>I No ClinGen
gnomAD
CA9720124
rs746806690
696 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA9720123
rs777620031
699 H>D No ClinGen
ExAC
gnomAD
CA407945578
rs777620031
699 H>N No ClinGen
ExAC
gnomAD
rs200374765
CA310617991
699 H>R No ClinGen
TOPMed
gnomAD
rs1266082755
CA407945498
700 L>R No ClinGen
TOPMed
CA9720122
rs758378675
701 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA407945472
rs1452035994
702 T>P No ClinGen
gnomAD
CA9720121
rs754001439
703 H>D No ClinGen
ExAC
gnomAD
CA407945458
rs754001439
703 H>N No ClinGen
ExAC
gnomAD
rs146120851
CA9720120
703 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407945427
rs1431190035
704 R>* No ClinGen
TOPMed
CA9720119
rs149604450
704 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407945394
rs138274172
705 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407945376
rs1384596349
705 R>Q No ClinGen
TOPMed
CA9720117
rs551628942
706 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201352824
CA9720116
707 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1020888598
CA310617975
708 P>A No ClinGen
gnomAD
rs751926237
CA9720115
709 F>V No ClinGen
ExAC
gnomAD
rs1384157858
CA407945209
710 A>D No ClinGen
gnomAD
CA310617970
rs950894425
710 A>P No ClinGen
gnomAD
CA9720114
rs764621385
712 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1455165967
CA407945120
713 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA407945093
rs1373120490
714 C>Y No ClinGen
gnomAD
rs1284536763
CA407945043
716 R>C No ClinGen
TOPMed
CA9720113
rs150107156
717 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1432428963
CA407945016
717 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA407945000
rs1396411352
718 F>L No ClinGen
gnomAD
rs1401224369
CA407944989
719 H>Q No ClinGen
gnomAD
COSM1397355
CA407944992
rs1449324879
719 H>R large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA9720112
rs200117940
720 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1600094472
CA407944977
720 Q>R No ClinGen
Ensembl
CA310617948
rs891264501
721 S>N No ClinGen
TOPMed
CA407944960
rs1428508818
721 S>R No ClinGen
gnomAD
rs868632915
CA407944956
722 T>A No ClinGen
gnomAD
rs868632915
CA310617945
722 T>P No ClinGen
gnomAD
CA407944939
rs1188742035
723 K>R No ClinGen
gnomAD
CA9720111
rs769228941
725 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs1568673478
CA407944855
727 H>R No ClinGen
Ensembl
rs759082568
CA9720110
730 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs932864324
CA310617939
732 S>R No ClinGen
TOPMed
gnomAD
rs954594385
CA310617935
733 A>S No ClinGen
TOPMed
CA407944738
rs1281212976
733 A>V No ClinGen
gnomAD
CA310617931
rs377592261
734 E>K No ClinGen
ESP
TOPMed
gnomAD
CA407944706
rs1180839605
735 E>E No ClinGen
TOPMed

No associated diseases with P28698

1 regional properties for P28698

Type Name Position InterPro Accession
domain Proteasome alpha-subunit, N-terminal domain 5 - 27 IPR000426

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

8 GO annotations of molecular function

Name Definition
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 A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
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.
DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
protein homodimerization activity Binding to an identical protein to form a homodimer.
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.
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.

3 GO annotations of biological process

Name Definition
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
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.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

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
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
P08151 GLI1 Zinc finger protein GLI1 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
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
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 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
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
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 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
MRPAVLGSPD RAPPEDEGPV MVKLEDSEEE GEAALWDPGP EAARLRFRCF RYEEATGPQE
70 80 90 100 110 120
ALAQLRELCR QWLRPEVRSK EQMLELLVLE QFLGALPPEI QARVQGQRPG SPEEAAALVD
130 140 150 160 170 180
GLRREPGGPR RWVTVQVQGQ EVLSEKMEPS SFQPLPETEP PTPEPGPKTP PRTMQESPLG
190 200 210 220 230 240
LQVKEESEVT EDSDFLESGP LAATQESVPT LLPEEAQRCG TVLDQIFPHS KTGPEGPSWR
250 260 270 280 290 300
EHPRALWHEE AGGIFSPGFA LQLGSISAGP GSVSPHLHVP WDLGMAGLSG QIQSPSREGG
310 320 330 340 350 360
FAHALLLPSD LRSEQDPTDE DPCRGVGPAL ITTRWRSPRG RSRGRPSTGG GVVRGGRCDV
370 380 390 400 410 420
CGKVFSQRSN LLRHQKIHTG ERPFVCSECG RSFSRSSHLL RHQLTHTEER PFVCGDCGQG
430 440 450 460 470 480
FVRSARLEEH RRVHTGEQPF RCAECGQSFR QRSNLLQHQR IHGDPPGPGA KPPAPPGAPE
490 500 510 520 530 540
PPGPFPCSEC RESFARRAVL LEHQAVHTGD KSFGCVECGE RFGRRSVLLQ HRRVHSGERP
550 560 570 580 590 600
FACAECGQSF RQRSNLTQHR RIHTGERPFA CAECGKAFRQ RPTLTQHLRV HTGEKPFACP
610 620 630 640 650 660
ECGQRFSQRL KLTRHQRTHT GEKPYHCGEC GLGFTQVSRL TEHQRIHTGE RPFACPECGQ
670 680 690 700 710 720
SFRQHANLTQ HRRIHTGERP YACPECGKAF RQRPTLTQHL RTHRREKPFA CQDCGRRFHQ
730
STKLIQHQRV HSAE