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

4 structures for Q13127

Entry ID Method Resolution Chain Position Source
2CZY NMR - B 43-57 PDB
6DU2 X-ray 250 A C/D 858-869 PDB
6DU3 X-ray 258 A C/D 858-869 PDB
AF-Q13127-F1 Predicted AlphaFoldDB

901 variants for Q13127

Variant ID(s) Position Change Description Diseaes Association Provenance
CA357003184
RCV001294083
rs1342633562
80 G>R Fibromatosis, gingival, 5 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV002553235
rs138686672
CA2932102
RCV001050838
141 P>R Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_076333 160 R>P WT6; inhibits transcriptional repression activity [UniProt] Yes UniProt
RCV003163631
rs375735172
CA2932115
RCV001213984
176 H>R Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs869025311
RCV000207468
258 V>missing Wilms tumor 6 [ClinVar] Yes ClinVar
dbSNP
RCV001230375
rs869025310
RCV000207462
278 C>missing Wilms tumor 6 [ClinVar] Yes ClinVar
dbSNP
VAR_076334 290 N>Y WT6; inhibits transcriptional repression activity [UniProt] Yes UniProt
VAR_076335
RCV000207458
rs869025312
CA351624
322 H>R Wilms tumor 6 WT6; inhibits transcriptional repression activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_076336 412 H>Q WT6 [UniProt] Yes UniProt
rs1553904077
CA357006327
RCV000516150
RCV000498225
437 L>* Fibromatosis, gingival, 1 Fibromatosis, gingival, 5 Fibromatosis, gingival, 1 (gingf1) [ClinVar, Ensembl] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_079529 437 L>del GINGF5 [UniProt] Yes UniProt
RCV001526813
RCV001212714
rs778247936
CA2932251
448 I>M Wilms tumor 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002254722
RCV001325863
CA2932295
rs754696564
547 V>L Wilms tumor 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001068521
RCV002554548
rs201530969
CA2932424
727 E>K Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSM3302227
rs139336427
RCV000922186
CA2932439
RCV002540995
750 S>T skin Inborn genetic diseases [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000515908
rs1553904346
RCV000498949
805 L>missing Fibromatosis, gingival, 1 Fibromatosis, gingival, 5 [ClinVar] Yes ClinVar
dbSNP
CA357008952
rs1553904378
RCV000624224
839 E>* Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV002563960
CA2932533
RCV001239828
rs748529871
894 L>F Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2932542
rs775073659
RCV001322230
RCV002546092
912 N>T Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000995854
rs1284461687
CA357009492
924 Q>* Fibromatosis, gingival, 5 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1553904481
RCV000516014
RCV000497680
RCV001851328
958 N>missing Fibromatosis, gingival, 1 Fibromatosis, gingival, 5 [ClinVar] Yes ClinVar
dbSNP
RCV001055429
rs751959764
CA2932571
RCV002553354
958 N>T Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2932032
rs766627256
3 T>N No ClinGen
ExAC
gnomAD
rs1286387521
CA357002332
5 V>A No ClinGen
gnomAD
CA357002333
rs1286387521
5 V>G No ClinGen
gnomAD
rs1173516304
CA357002328
5 V>I No ClinGen
gnomAD
TCGA novel 6 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA97629369
rs199666541
14 G>A No ClinGen
Ensembl
CA357002388
CA357002387
rs1216190809
14 G>R No ClinGen
gnomAD
CA97629372
rs1029986380
15 L>V No ClinGen
TOPMed
gnomAD
rs755279791
CA2932034
18 S>G No ClinGen
ExAC
gnomAD
rs1387715042
CA357002414
18 S>N No ClinGen
Ensembl
rs147722706
CA97629377
20 G>A No ClinGen
ESP
CA2932036
rs375511894
23 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2932037
RCV001348285
rs777368920
24 M>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA97629383
rs894647864
25 A>D No ClinGen
gnomAD
rs1178475745
CA357002529
25 A>S No ClinGen
TOPMed
gnomAD
CA97629386
rs948833888
29 D>N No ClinGen
TOPMed
rs758725744
CA2932038
30 M>V No ClinGen
ExAC
TOPMed
gnomAD
RCV001341699
rs967744114
31 Y>C No ClinVar
dbSNP
CA2932039
rs778338685
31 Y>D No ClinGen
ExAC
gnomAD
CA97629391
rs967744114
31 Y>S No ClinGen
TOPMed
rs1437046091
CA357002750
37 S>C No ClinGen
gnomAD
rs776125562
CA2932042
38 K>Q No ClinGen
ExAC
gnomAD
rs1267572500
CA357002811
40 E>V No ClinGen
TOPMed
CA2932044
rs769459656
42 A>G No ClinGen
ExAC
gnomAD
rs1388661460
CA357002837
42 A>T No ClinGen
TOPMed
gnomAD
rs1578485109
CA357002850
43 A>T No ClinGen
Ensembl
CA2932045
rs775172840
47 I>L No ClinGen
ExAC
gnomAD
CA97629405
rs1014583225
48 M>I No ClinGen
Ensembl
rs1381137665
CA357002934
48 M>L No ClinGen
TOPMed
gnomAD
TCGA novel 50 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932048
rs370180021
58 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2932049
rs370180021
58 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357003041
rs1206566572
59 N>S No ClinGen
gnomAD
rs766523223
CA2932051
63 C>R No ClinGen
ExAC
gnomAD
CA2932053
rs755153452
65 Y>H No ClinGen
ExAC
gnomAD
rs1401967892
CA357003090
66 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA357003095
rs1331461971
67 V>L No ClinGen
gnomAD
CA357003130
rs377080732
72 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377080732
CA2932055
72 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1321193438
CA357003150
74 A>V No ClinGen
gnomAD
TCGA novel 75 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357003161
rs1221861537
76 L>Q No ClinGen
gnomAD
CA357003174
rs142504829
78 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2932056
rs142504829
78 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1259814228
CA357003182
79 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs747481199
CA2932058
80 G>E No ClinGen
ExAC
gnomAD
CA2932060
rs545879908
81 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs745360783
CA2932061
82 N>S No ClinGen
ExAC
gnomAD
rs757097016
CA97629447
85 S>A No ClinGen
Ensembl
rs757097016
CA97629445
85 S>T No ClinGen
Ensembl
CA357003230
rs775123471
86 D>E No ClinGen
ExAC
gnomAD
RCV000818840
rs1578485326
89 E>missing No ClinVar
dbSNP
CA2932064
rs796154475
89 E>G No ClinGen
TOPMed
gnomAD
CA2932066
rs748955783
90 G>R No ClinGen
ExAC
gnomAD
CA357003261
rs1477281855
91 E>K No ClinGen
gnomAD
CA2932067
rs61748753
RCV000886566
92 G>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1044394452
CA97629460
93 L>P No ClinGen
TOPMed
gnomAD
CA97629463
rs909981105
95 E>K No ClinGen
TOPMed
rs941391615
CA97629465
96 S>Y No ClinGen
TOPMed
CA357003300
rs761757985
97 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs977427795
CA357003298
97 A>S No ClinGen
TOPMed
gnomAD
rs977427795
CA97629472
97 A>T No ClinGen
TOPMed
gnomAD
rs761757985
CA2932069
97 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs139840343
CA2932070
98 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1387367997
CA357003302
98 D>H No ClinGen
gnomAD
rs1323149927
CA357003306
98 D>V No ClinGen
gnomAD
CA2932072
rs141631518
99 I>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2932071
RCV001343405
rs141631518
99 I>T No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001051855
CA2932075
rs150412877
101 G>D No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs752906763
CA2932074
101 G>S No ClinGen
ExAC
gnomAD
CA2932077
rs751894476
103 P>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357003337
rs1356441917
103 P>S No ClinGen
gnomAD
rs1356441917
CA357003335
103 P>T No ClinGen
gnomAD
TCGA novel 104 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757667930
CA2932078
104 H>P No ClinGen
ExAC
gnomAD
COSM1726171
rs781642150
CA2932079
105 G>V liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs755611815
CA2932081
106 L>P No ClinGen
ExAC
gnomAD
CA2932083
rs748907683
109 M>V No ClinGen
ExAC
gnomAD
TCGA novel 113 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357003444
rs1302497540
113 S>N No ClinGen
gnomAD
TCGA novel 113 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs940245420
CA97629509
118 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1298973547
CA357003540
119 V>I No ClinGen
gnomAD
CA2932087
rs772055621
120 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2932088
rs773267428
121 P>R No ClinGen
ExAC
gnomAD
CA2932090
rs149829250
COSM587858
RCV000884953
123 P>A lung [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs770225600
CA2932092
125 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1352164694
CA357003670
127 A>V No ClinGen
TOPMed
gnomAD
rs1288824485
CA357003684
128 S>L No ClinGen
gnomAD
rs549796077
CA2932094
129 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA357003704
rs1225668240
130 A>G No ClinGen
TOPMed
CA2932095
rs762162582
130 A>S No ClinGen
ExAC
gnomAD
CA357003709
rs1336567719
131 P>A No ClinGen
gnomAD
CA2932097
rs750876253
132 D>G No ClinGen
ExAC
gnomAD
rs1424886471
CA357003733
133 I>V No ClinGen
gnomAD
rs1366817450
CA357003767
135 S>N No ClinGen
gnomAD
CA2932098
rs756621666
135 S>R No ClinGen
ExAC
gnomAD
rs374614406
CA2932100
138 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1358594587
CA357003814
138 K>R No ClinGen
gnomAD
rs112115500
CA2932101
139 D>G No ClinGen
ExAC
gnomAD
TCGA novel 139 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1417692214
CA357003842
140 L>I No ClinGen
TOPMed
gnomAD
RCV001344821
rs1719881567
140 L>R No ClinVar
dbSNP
CA357003843
rs1417692214
140 L>V No ClinGen
TOPMed
gnomAD
rs763563599
CA2932103
142 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA357003880
rs1428820816
143 E>K No ClinGen
TOPMed
rs1401987985
CA357003906
144 T>I No ClinGen
Ensembl
CA357003916
rs1184775327
145 P>R No ClinGen
gnomAD
TCGA novel 147 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357003948
rs1310429913
147 A>V No ClinGen
gnomAD
RCV001041844
rs1719882659
148 E>missing No ClinVar
dbSNP
rs566521492
CA2932106
152 K>R No ClinGen
1000Genomes
ExAC
gnomAD
RCV001295758
rs1371092850
CA357004036
153 S>G No ClinGen
ClinVar
TOPMed
dbSNP
CA357004042
rs370369213
153 S>I No ClinGen
ESP
TOPMed
gnomAD
CA97629559
rs370369213
153 S>N No ClinGen
ESP
TOPMed
gnomAD
rs771308736
CA2932108
154 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs771308736
CA2932107
154 S>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 155 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1483752957
CA357004111
160 R>C No ClinGen
gnomAD
rs1200394143
CA357004112
160 R>H No ClinGen
TOPMed
gnomAD
rs1200394143
CA357004114
160 R>L No ClinGen
TOPMed
gnomAD
rs1434028396
CA357004136
163 P>L No ClinGen
TOPMed
CA2932111
rs774426666
165 Q>R No ClinGen
ExAC
gnomAD
rs368110817
CA2932113
168 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1369643422
CA357004207
173 Q>R No ClinGen
gnomAD
CA357004224
rs1178455302
175 V>A No ClinGen
gnomAD
rs766763031
CA357004240
178 I>F No ClinGen
ExAC
gnomAD
CA2932116
rs766763031
178 I>V No ClinGen
ExAC
gnomAD
CA97629600
rs1031974892
179 R>T No ClinGen
gnomAD
CA2932117
rs754431649
182 S>G No ClinGen
ExAC
gnomAD
CA357004280
rs1208006031
184 K>E No ClinGen
TOPMed
CA357004288
rs1374252597
185 K>E No ClinGen
gnomAD
CA2932119
rs764815520
186 F>L No ClinGen
ExAC
CA2932120
rs752331309
186 F>S No ClinGen
ExAC
gnomAD
TCGA novel 188 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357004315
rs1346306429
189 E>K No ClinGen
TOPMed
rs146236318
CA2932122
190 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757117156
CA2932124
192 A>T No ClinGen
ExAC
gnomAD
CA357004357
rs1459464915
194 K>N No ClinGen
TOPMed
gnomAD
CA2932125
rs780987128
195 Q>R No ClinGen
ExAC
gnomAD
rs745876653
CA2932126
RCV001241448
198 A>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001053987
CA2932127
rs768565370
199 R>G No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA357004395
rs1193154231
200 E>G No ClinGen
gnomAD
CA357004404
COSM98199
rs1309614313
201 S>F upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1432826392
CA357004409
202 G>A No ClinGen
TOPMed
rs369789287
CA2932129
203 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs369789287
CA357004415
203 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1173681874
CA357004420
204 S>C No ClinGen
gnomAD
rs981639576
CA97629646
205 T>A No ClinGen
TOPMed
gnomAD
rs773458977
CA2932131
205 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs981639576
CA357004423
205 T>P No ClinGen
TOPMed
gnomAD
CA97629648
rs373691787
206 A>S No ClinGen
TOPMed
rs1441216415
CA357004458
210 D>G No ClinGen
TOPMed
CA2932137
rs752278153
212 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs752278153
CA97629671
212 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 216 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932138
rs376611047
217 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2932139
rs763808902
217 R>H No ClinGen
ExAC
gnomAD
CA357004522
rs1346435228
COSM192719
220 R>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs751325926
CA2932140
220 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1578486222
CA357004535
222 G>C No ClinGen
Ensembl
rs781057074
CA2932142
223 Y>* No ClinGen
ExAC
gnomAD
CA357004552
rs1223861498
224 N>K No ClinGen
gnomAD
CA357004577
rs1488268000
228 Y>C No ClinGen
gnomAD
rs1189295494
CA357004609
232 T>R No ClinGen
gnomAD
CA357004633
rs1265108771
236 K>Q No ClinGen
gnomAD
rs756112086
CA2932144
239 T>I No ClinGen
ExAC
gnomAD
CA357004664
rs1246760297
240 R>K No ClinGen
gnomAD
CA357004674
rs1421379957
241 A>V No ClinGen
gnomAD
CA97629688
rs368339850
243 D>E No ClinGen
ESP
TOPMed
CA357004685
rs1406655944
243 D>G No ClinGen
gnomAD
rs1164834053
CA357004689
244 N>D No ClinGen
TOPMed
gnomAD
CA2932146
rs748191155
246 R>* No ClinGen
ExAC
gnomAD
rs772203091
CA2932147
246 R>Q No ClinGen
ExAC
rs1314534661
CA357004707
247 V>I No ClinGen
TOPMed
gnomAD
CA357004721
rs1412642189
249 K>Q No ClinGen
TOPMed
CA357004725
rs1456092970
249 K>R No ClinGen
TOPMed
gnomAD
CA357004760
rs1299598810
254 T>S No ClinGen
gnomAD
rs1342789857
CA357004785
258 V>M No ClinGen
gnomAD
rs1400922393
CA357004794
259 S>N No ClinGen
gnomAD
CA2932148
rs777955335
260 E>G No ClinGen
ExAC
gnomAD
CA2932151
rs777083737
267 L>V No ClinGen
ExAC
gnomAD
CA357004872
rs1321159629
269 N>I No ClinGen
gnomAD
TCGA novel 272 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932153
rs759911296
273 R>S No ClinGen
ExAC
gnomAD
rs1488530810
CA357004904
274 K>E No ClinGen
gnomAD
TCGA novel 276 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763756962
CA2932156
277 T>R No ClinGen
ExAC
gnomAD
CA97629739
rs1037293261
280 K>N No ClinGen
Ensembl
CA2932158
rs201400863
282 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs201400863
CA357004963
282 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1014438653
CA97629746
283 Y>C No ClinGen
TOPMed
rs767179173
CA2932159
283 Y>H No ClinGen
ExAC
gnomAD
CA2932160
rs750258882
285 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
RCV001313216
rs1160091901
286 D>E No ClinVar
dbSNP
TCGA novel 289 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 291 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759671149
CA97629754
293 Q>* No ClinGen
Ensembl
CA2932162
rs779959126
296 R>I No ClinGen
ExAC
TOPMed
gnomAD
rs1277910638
CA357005162
302 R>P No ClinGen
gnomAD
rs757320743
CA2932187
307 E>Q No ClinGen
ExAC
gnomAD
CA97632582
rs567456057
323 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA2932191
rs567456057
323 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA357005306
rs1173497088
323 M>V No ClinGen
gnomAD
CA357005312
rs1468725438
324 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 325 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 326 H>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 326 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1191600909
CA357005611
333 K>N No ClinGen
gnomAD
CA357005622
rs1560451153
335 D>N No ClinGen
Ensembl
TCGA novel 339 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932211
rs780520222
339 Y>F No ClinGen
ExAC
gnomAD
rs1163187321
CA357005659
340 V>M No ClinGen
gnomAD
CA2932212
rs749651610
341 A>S No ClinGen
ExAC
gnomAD
rs1560451173
CA357005672
342 S>A No ClinGen
Ensembl
rs1578512879
CA357005714
348 T>P No ClinGen
Ensembl
rs1419352292
CA357005722
349 R>C No ClinGen
TOPMed
TCGA novel 355 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357005788
rs1298563122
358 P>L No ClinGen
gnomAD
CA357005803
COSM1694423
rs1208548556
361 L>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
CA357005814
rs1429750659
362 N>T No ClinGen
TOPMed
gnomAD
CA357005838
rs139443175
365 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357005836
rs1380492040
365 H>R No ClinGen
TOPMed
gnomAD
rs772625881
CA2932217
367 D>Y No ClinGen
ExAC
CA97636299
rs77133253
368 Y>* No ClinGen
Ensembl
rs1347262737
CA357005897
374 S>G No ClinGen
TOPMed
CA97636302
rs997052671
383 H>Y No ClinGen
Ensembl
rs776304738
CA2932220
388 Q>R No ClinGen
ExAC
gnomAD
CA2932221
rs150066390
390 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775441291
CA2932223
393 V>L No ClinGen
ExAC
gnomAD
CA357006049
rs1383675520
395 D>E No ClinGen
gnomAD
rs112873471
CA97636321
395 D>G No ClinGen
Ensembl
rs762805457
CA2932224
395 D>N No ClinGen
ExAC
gnomAD
CA357006093
rs1159435321
402 C>R No ClinGen
gnomAD
rs750555052
CA2932226
413 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs916067592
CA97636325
413 P>R No ClinGen
TOPMed
CA97636329
rs1029140562
414 T>A No ClinGen
gnomAD
CA2932227
rs756313952
414 T>I No ClinGen
ExAC
gnomAD
CA2932229
rs754183550
416 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA97636342
rs754183550
416 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs539110951
CA2932230
417 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2932231
rs539110951
417 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2932232
rs552744964
417 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357006209
rs1578513163
419 T>A No ClinGen
Ensembl
CA2932234
rs778391887
419 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1560451320
CA357006214
420 M>V No ClinGen
Ensembl
CA357006245
rs1346305938
424 K>T No ClinGen
TOPMed
gnomAD
CA357006266
rs1179513496
427 L>Q No ClinGen
gnomAD
CA2932239
rs769566447
428 K>E No ClinGen
ExAC
gnomAD
TCGA novel 428 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1378181425
CA357006287
430 T>N No ClinGen
gnomAD
TCGA novel 430 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762902446
CA2932241
431 K>E No ClinGen
ExAC
gnomAD
CA2932242
rs768459194
432 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs774473417
CA2932243
433 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 433 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 434 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370713548
CA357006312
434 E>G No ClinGen
gnomAD
CA2932245
rs760836798
435 A>P No ClinGen
ExAC
gnomAD
rs760836798
CA2932244
435 A>T No ClinGen
ExAC
gnomAD
rs754044227
CA2932246
436 D>E No ClinGen
ExAC
gnomAD
rs1041043286
CA97636389
436 D>Y No ClinGen
TOPMed
TCGA novel 437 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs569303832
CA2932247
437 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA2932248
rs765586309
438 P>H No ClinGen
ExAC
gnomAD
rs373407636
CA97636413
439 D>G No ClinGen
ESP
CA357006349
rs1261755869
440 N>I No ClinGen
gnomAD
TCGA novel 440 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932249
rs752980074
441 I>V No ClinGen
ExAC
gnomAD
rs1720897461
RCV001213709
442 T>A No ClinVar
dbSNP
rs538429646
CA2932250
443 N>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 446 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA97636417
RCV001313302
rs764285600
448 I>T No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001053637
rs1720897736
448 I>V No ClinVar
dbSNP
rs1560451450
CA357006426
451 T>R No ClinGen
Ensembl
TCGA novel 452 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932252
rs555004124
452 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA2932253
rs756699542
453 I>V No ClinGen
ExAC
gnomAD
rs745483275
CA2932255
454 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs780685597
CA2932254
454 K>R No ClinGen
ExAC
gnomAD
rs967056074
CA97636430
456 D>G No ClinGen
Ensembl
CA357006455
rs1330817652
456 D>N No ClinGen
TOPMed
gnomAD
rs1465746551
CA357006466
458 A>T No ClinGen
gnomAD
CA357006479
rs1414044696
460 K>E No ClinGen
TOPMed
CA357006499
rs1293688056
462 N>K No ClinGen
gnomAD
CA2932259
rs768566876
462 N>T No ClinGen
ExAC
gnomAD
CA2932260
rs774421905
COSM1430334
466 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1215291953
CA357006546
469 E>G No ClinGen
gnomAD
rs759708208
CA2932264
472 D>Y No ClinGen
ExAC
gnomAD
rs1241455829
CA357006584
475 K>E No ClinGen
TOPMed
CA357006597
rs1189076248
476 E>V No ClinGen
TOPMed
TCGA novel 478 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1292699206
CA357006611
478 K>T No ClinGen
TOPMed
gnomAD
rs753029340
CA2932266
479 P>A No ClinGen
ExAC
CA357006621
rs763214077
480 S>P No ClinGen
ExAC
gnomAD
CA2932267
rs763214077
480 S>T No ClinGen
ExAC
gnomAD
CA2932270
rs757792826
485 V>A No ClinGen
ExAC
gnomAD
RCV000895645
rs575170084
CA2932269
485 V>M No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA357006668
rs1290857052
487 Q>P No ClinGen
TOPMed
CA357006681
rs1165117154
489 T>S No ClinGen
gnomAD
rs1230396425
CA357006698
492 T>S No ClinGen
TOPMed
rs749881609
CA97636453
493 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA357006704
rs749881609
493 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2932273
rs755693790
493 R>Q No ClinGen
ExAC
gnomAD
CA357006710
rs1560451582
494 K>T No ClinGen
Ensembl
TCGA novel 495 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357006722
rs1301654600
496 V>L No ClinGen
gnomAD
CA2932274
rs779572079
497 T>A No ClinGen
ExAC
TOPMed
gnomAD
COSM734047
CA357006743
rs1323370113
499 V>E lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 499 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1439508558
CA357006780
504 V>M No ClinGen
TOPMed
rs534211728
CA2932276
506 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs754749492
CA2932277
506 T>R No ClinGen
ExAC
RCV001050392
rs1720904030
507 G>E No ClinVar
dbSNP
rs1578513720
CA357006804
508 S>G No ClinGen
Ensembl
rs201819290
CA2932278
509 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA357006828
rs1358952987
511 E>G No ClinGen
gnomAD
TCGA novel 512 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560451643
CA357006843
513 F>C No ClinGen
Ensembl
RCV001244389
CA2932279
rs748046758
514 S>R No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2932280
rs772110771
516 T>I No ClinGen
ExAC
gnomAD
CA357006869
rs1447300108
517 K>E No ClinGen
gnomAD
CA357006890
rs1451307650
519 S>R No ClinGen
TOPMed
CA357006896
rs1578513787
520 K>R No ClinGen
Ensembl
CA2932282
rs773320485
521 R>K No ClinGen
ExAC
gnomAD
CA357006910
rs1483986355
522 K>R No ClinGen
gnomAD
rs1393178453
CA357006929
525 V>F No ClinGen
TOPMed
CA97636478
rs74802679
526 D>A No ClinGen
Ensembl
rs867012825
CA97636481
526 D>E No ClinGen
Ensembl
rs1427457994
CA357006940
527 S>G No ClinGen
TOPMed
gnomAD
rs769974147
CA357006945
527 S>R No ClinGen
ExAC
gnomAD
rs1247527926
CA357006951
528 H>R No ClinGen
TOPMed
RCV001213554
rs1720906927
528 H>Y No ClinVar
dbSNP
CA357006959
rs1223990926
529 S>C No ClinGen
TOPMed
CA357006972
rs1560451695
531 H>R No ClinGen
Ensembl
CA2932285
rs141001113
532 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1034671158
CA357006984
533 P>H No ClinGen
TOPMed
CA97636491
rs1034671158
533 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA2932286
rs763241761
537 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA97636495
rs950119056
537 E>K No ClinGen
Ensembl
RCV000948276
CA2932287
rs61748754
539 S>P No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA357007032
rs1452216654
540 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1344692204
CA357007027
540 S>T No ClinGen
gnomAD
rs762215943
CA2932289
543 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 544 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932290
rs767983452
544 K>R No ClinGen
ExAC
gnomAD
TCGA novel 545 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357007073
rs562997282
546 K>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2932293
rs765932585
546 K>N No ClinGen
ExAC
TOPMed
gnomAD
RCV001069474
CA2932292
rs562997282
546 K>R No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA2932296
RCV001305378
rs148966683
547 V>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA357007076
rs754696564
547 V>I No ClinGen
ExAC
gnomAD
CA357007082
rs1578513979
548 E>A No ClinGen
Ensembl
rs758332878
CA2932299
550 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA357007105
rs777556718
RCV001337405
551 S>C No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs777556718
CA2932300
551 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs374809419
CA2932301
552 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357007111
rs1373563459
552 K>R No ClinGen
TOPMed
CA2932302
rs769696285
553 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1233084710
CA357007122
554 N>D No ClinGen
gnomAD
CA357007121
rs1233084710
554 N>H No ClinGen
gnomAD
rs770372094
CA97636538
555 S>G No ClinGen
Ensembl
CA2932304
rs749464692
560 K>E No ClinGen
ExAC
gnomAD
rs368950724
CA2932305
562 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV001348097
rs1177703488
563 S>I No ClinVar
dbSNP
CA357007188
rs1177703488
563 S>T No ClinGen
gnomAD
CA2932306
rs774598378
568 N>D No ClinGen
ExAC
gnomAD
CA2932307
rs762164515
568 N>K No ClinGen
ExAC
gnomAD
CA2932308
rs541994823
569 K>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2932309
rs541994823
569 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357007246
rs1369415378
571 Q>R No ClinGen
gnomAD
rs561677801
CA2932310
572 N>H No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 573 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001210246
TCGA novel
rs1720913432
574 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinVar
NCI-TCGA
dbSNP
CA357007277
rs1484206596
575 M>I No ClinGen
TOPMed
rs1206406732
CA357007272
575 M>V No ClinGen
TOPMed
CA2932313
rs753362904
576 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA2932311
rs765754806
576 K>Q No ClinGen
ExAC
gnomAD
CA2932314
rs764975553
578 S>N No ClinGen
ExAC
gnomAD
CA357007294
rs1179161363
578 S>R No ClinGen
gnomAD
CA357007299
rs1481592088
578 S>R No ClinGen
gnomAD
rs1199978831 578 S>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA97636554
rs940282411
579 T>I No ClinGen
TOPMed
CA357007308
rs1200855025
580 K>Q No ClinGen
TOPMed
gnomAD
rs752454165
CA2932315
RCV001312298
583 T>A No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs546657732
CA2932316
586 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1169703293
CA357007353
586 N>S No ClinGen
gnomAD
rs777628511
CA2932317
587 K>T No ClinGen
ExAC
gnomAD
rs751413133
CA2932318
592 S>T No ClinGen
ExAC
gnomAD
rs1405313969
CA357007400
593 S>G No ClinGen
TOPMed
gnomAD
rs890164945
CA97636577
593 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2932319
rs757241783
594 K>N No ClinGen
ExAC
gnomAD
rs1008600489
CA357007417
595 P>L No ClinGen
TOPMed
gnomAD
CA97636581
rs1008600489
595 P>R No ClinGen
TOPMed
gnomAD
rs372976455
CA2932322
596 P>L No ClinGen
ESP
ExAC
gnomAD
rs749346190
CA2932321
596 P>S No ClinGen
ExAC
gnomAD
CA2932323
rs779100185
598 K>E No ClinGen
ExAC
gnomAD
CA97636592
rs901145804
599 E>G No ClinGen
TOPMed
gnomAD
rs748370783
CA2932324
600 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs772263163
CA2932325
600 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA357007448
rs1195906711
601 V>I No ClinGen
gnomAD
rs773660811
CA2932326
604 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA357007480
rs1475091316
605 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1387308478
CA357007499
608 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA357007507
rs1578514334
609 D>A No ClinGen
Ensembl
rs1302275759
CA357007514
610 P>S No ClinGen
gnomAD
CA97636607
rs374180496
611 P>R No ClinGen
Ensembl
CA357007525
rs1363425700
612 Q>* No ClinGen
gnomAD
rs1401800389
CA357007529
612 Q>H No ClinGen
gnomAD
rs771450067
CA2932328
613 M>K No ClinGen
ExAC
gnomAD
CA357007548
rs1224610611
615 P>L No ClinGen
gnomAD
rs1285640601
CA357007553
616 A>T No ClinGen
gnomAD
rs1471241534
CA357007568
618 T>R No ClinGen
gnomAD
rs1359685376
CA357007571
619 E>A No ClinGen
gnomAD
rs759114220
CA2932330
619 E>D No ClinGen
ExAC
gnomAD
CA97636613
rs1020026657
619 E>K No ClinGen
Ensembl
rs142843754
CA2932331
620 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357007585
rs1578514424
621 V>G No ClinGen
Ensembl
CA2932334
rs763755642
COSM24350
622 Q>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2932336
rs757050088
624 G>R No ClinGen
ExAC
CA2932337
rs781173916
625 P>S No ClinGen
ExAC
gnomAD
CA2932339
VAR_029795
rs2228991
626 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs778973582
RCV001340513
CA2932340
627 Q>E No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1181615706
CA357007619
627 Q>R No ClinGen
TOPMed
CA2932342
rs748334019
628 V>E No ClinGen
ExAC
gnomAD
CA2932341
rs748334019
628 V>G No ClinGen
ExAC
gnomAD
rs538702285
CA97636626
628 V>M No ClinGen
Ensembl
rs777908846
CA2932343
629 E>G No ClinGen
ExAC
gnomAD
CA357007627
rs1383156613
629 E>K No ClinGen
gnomAD
rs144905338
RCV001243115
CA2932344
630 P>L No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM1430337
rs958664617
CA97636630
630 P>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA357007639
rs1338160539
631 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA97636635
rs202214963
632 P>L No ClinGen
gnomAD
CA2932346
rs777213931
634 M>I No ClinGen
ExAC
TOPMed
gnomAD
RCV001316501
rs1382836181
CA357007654
634 M>V No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA357007666
rs1312390036
635 E>G No ClinGen
gnomAD
rs769381343
CA2932348
636 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs201189406
CA2932349
637 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762410337
CA2932350
637 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA357007687
rs1245071756
638 Q>H No ClinGen
gnomAD
TCGA novel 640 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1461770315
CA357007716
642 A>G No ClinGen
TOPMed
gnomAD
CA357007717
RCV001315343
rs1461770315
642 A>V No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA2932352
rs763778581
643 Q>H No ClinGen
ExAC
CA2932355
rs761661933
COSM1291932
645 R>Q upper_aerodigestive_tract haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2932354
RCV001045626
rs138773727
645 R>W No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs756063859
CA2932358
646 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs750298956
CA2932357
646 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA357007749
rs1560452115
648 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA2932359
rs569722591
648 P>S No ClinGen
1000Genomes
TOPMed
gnomAD
rs113122612
CA2932362
RCV000956215
649 D>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1560452139
CA357007763
650 E>D No ClinGen
Ensembl
COSM1430338
RCV001324993
CA357007757
rs1334359309
650 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
CA357007765
rs1375026161
651 P>T No ClinGen
gnomAD
CA2932366
rs752754374
653 Q>R No ClinGen
ExAC
gnomAD
CA2932368
rs778054714
655 E>Q No ClinGen
ExAC
gnomAD
rs1237525823
CA357007801
656 V>L No ClinGen
gnomAD
TCGA novel 657 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932370
rs548739943
657 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA2932369
rs548739943
657 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs746337844
CA2932372
658 Q>* No ClinGen
ExAC
gnomAD
CA2932373
rs568791076
658 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs748816108
CA2932375
659 E>K No ClinGen
ExAC
gnomAD
CA2932376
rs768115863
660 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA2932377
rs768115863
660 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs767247227
CA2932379
662 A>V No ClinGen
ExAC
gnomAD
rs1358568992
CA357007842
663 Q>R No ClinGen
gnomAD
CA2932381
rs760516583
664 K>R No ClinGen
ExAC
gnomAD
rs1264491491
CA357007885
670 V>G No ClinGen
TOPMed
COSM1642502
RCV000886788
rs145504954
CA2932385
670 V>M stomach [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs138787075
CA2932386
671 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1285799630
CA357007900
672 P>L No ClinGen
gnomAD
CA2932387
RCV001300634
rs556419593
673 A>V No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA357007907
rs1299328056
674 Q>E No ClinGen
TOPMed
gnomAD
CA97636780
rs908698864
675 M>T No ClinGen
TOPMed
rs746211428
CA2932389
676 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA357007925
rs746211428
676 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA97636786
rs961944647
677 G>R No ClinGen
TOPMed
CA357007930
rs1437359126
677 G>V No ClinGen
TOPMed
CA2932391
rs367688230
678 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2932390
rs367688230
678 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768151863
CA357007966
683 A>D No ClinGen
ExAC
gnomAD
CA2932393
rs768151863
683 A>V No ClinGen
ExAC
gnomAD
CA357007974
rs1269579269
684 H>Q No ClinGen
gnomAD
rs1720936153
RCV001040286
685 M>I No ClinVar
dbSNP
rs778305540
CA2932394
685 M>V No ClinGen
ExAC
gnomAD
rs747793114
CA2932396
686 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs149486440
RCV001320823
CA2932397
689 P>S No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1169375776
CA357008008
690 P>A No ClinGen
TOPMed
gnomAD
CA357008012
rs1370978551
690 P>L No ClinGen
gnomAD
RCV001351997
rs1169375776
CA357008009
690 P>S No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA2932399
rs770719504
691 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA2932400
rs776575945
691 M>T No ClinGen
ExAC
gnomAD
CA357008013
rs770719504
691 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs899168099
CA97636820
692 E>* No ClinGen
TOPMed
VAR_029796
CA2932401
rs2227902
692 E>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs899168099
CA357008020
692 E>K No ClinGen
TOPMed
rs1227375319
CA357008026
COSM1753790
693 T>P urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
CA357008034
rs1292233494
694 A>S No ClinGen
gnomAD
rs1299643587
CA357008040
695 Q>* No ClinGen
TOPMed
RCV001340762
rs1299643587
695 Q>E No ClinVar
dbSNP
rs141964506
CA2932402
696 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA2932404
rs780817845
COSM4005783
696 T>M Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
rs1295173943
CA357008054
697 E>G No ClinGen
gnomAD
rs572016877
CA2932407
698 V>G No ClinGen
1000Genomes
ExAC
gnomAD
rs202161415
CA2932406
698 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA2932408
rs756479154
699 A>T No ClinGen
ExAC
TOPMed
gnomAD
COSM4005784
rs374016428
CA2932409
700 Q>H urinary_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs111760333
CA2932411
RCV000956216
701 M>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2932410
rs540877198
701 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1485945984
COSM4135825
CA357008081
702 G>R ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
CA357008088
rs1371722247
703 P>A No ClinGen
TOPMed
CA357008093
COSM1753791
rs1446119135
704 A>P urinary_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1422035300
CA357008100
705 P>A No ClinGen
TOPMed
gnomAD
CA357008103
rs1163756753
705 P>R No ClinGen
gnomAD
rs1422035300
CA357008101
705 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 705 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357008120
rs1386263469
707 E>D No ClinGen
gnomAD
rs1578515207
CA357008125
708 P>H No ClinGen
Ensembl
CA2932415
rs771639346
709 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA357008132
rs1198920963
709 A>V No ClinGen
TOPMed
CA2932416
rs777342086
710 Q>R No ClinGen
ExAC
gnomAD
rs1247969810
CA357008162
713 V>G No ClinGen
TOPMed
rs746680187
CA2932417
714 A>S No ClinGen
ExAC
gnomAD
rs746680187
CA357008163
714 A>T No ClinGen
ExAC
gnomAD
CA2932418
rs770664440
714 A>V No ClinGen
ExAC
gnomAD
rs1024260073
CA97636865
716 V>A No ClinGen
gnomAD
CA357008175
rs1204179439
716 V>I No ClinGen
TOPMed
rs543390185
CA2932421
719 A>P No ClinGen
1000Genomes
ExAC
TOPMed
CA2932422
rs775554187
719 A>V No ClinGen
ExAC
gnomAD
CA97636875
rs1004072098
722 Q>E No ClinGen
TOPMed
rs1208592065
CA357008236
725 Q>R No ClinGen
TOPMed
rs750612169
CA2932425
728 P>R No ClinGen
ExAC
gnomAD
rs572960260
CA97636881
728 P>S No ClinGen
gnomAD
CA357008260
rs1255538537
729 V>L No ClinGen
TOPMed
COSM1294146
COSM734045
CA2932428
rs766722655
731 M>I lung cervix [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
CA357008292
rs1333116508
733 L>P No ClinGen
TOPMed
CA357008298
rs1286614883
734 S>F No ClinGen
TOPMed
rs754117527
CA2932429
734 S>T No ClinGen
ExAC
gnomAD
CA2932431
rs528953101
735 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs141166149
CA2932430
735 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61754065
CA357008304
736 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61754065
CA2932432
RCV001354442
RCV000948680
736 P>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA97636908
rs568623889
738 E>Q No ClinGen
1000Genomes
TOPMed
CA97636909
rs748898141
739 V>G No ClinGen
TOPMed
CA357008344
rs1172721722
742 K>E No ClinGen
TOPMed
rs757849649
CA2932433
RCV001299646
742 K>R No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000760805
rs777288773
CA357008351
743 E>* No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs777288773
CA2932434
743 E>K No ClinGen
ExAC
gnomAD
rs878887117
CA97636913
745 V>D No ClinGen
Ensembl
CA97636911
rs775811215
745 V>L No ClinGen
gnomAD
CA2932438
rs200745456
746 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149964103
CA2932436
746 Q>K No ClinGen
1000Genomes
TOPMed
gnomAD
RCV000949906
rs770752350
746 Q>missing No ClinVar
dbSNP
rs144031960
CA97636925
747 I>M No ClinGen
TOPMed
gnomAD
rs539480483
CA2932440
751 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357008399
rs1446031877
751 P>S No ClinGen
gnomAD
rs267600197
CA2932442
752 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs267600197
COSM24349
CA97636932
752 P>T skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs369803397
RCV001224630
753 M>missing No ClinVar
dbSNP
rs544207693
RCV001213261
CA97636942
753 M>I No ClinGen
ClinVar
1000Genomes
TOPMed
dbSNP
gnomAD
CA97636943
rs945526581
755 V>L No ClinGen
Ensembl
rs1266500956
CA357008429
756 V>F No ClinGen
TOPMed
rs1325154191
CA357008437
757 Q>R No ClinGen
gnomAD
TCGA novel 758 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1203720039
CA357008449
759 E>K No ClinGen
gnomAD
rs1016195062
CA97636959
760 P>R No ClinGen
TOPMed
gnomAD
CA2932446
rs775222659
760 P>S No ClinGen
ExAC
gnomAD
CA97636969
rs879137197
761 V>D No ClinGen
Ensembl
rs1042548096
CA97636965
761 V>F No ClinGen
TOPMed
VAR_029797
rs2227903
CA2932447
762 K>Q No ClinGen
UniProt
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
RCV001235982
rs775068300
762 K>missing No ClinVar
dbSNP
CA357008477
rs1470681199
763 I>M No ClinGen
gnomAD
rs555145007
CA2932449
763 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357008488
rs1410394195
765 L>Q No ClinGen
gnomAD
CA357008495
rs1181877521
766 S>C No ClinGen
TOPMed
gnomAD
CA357008496
rs1181877521
766 S>F No ClinGen
TOPMed
gnomAD
rs145232477
CA2932450
767 P>L No ClinGen
ESP
ExAC
gnomAD
rs145232477
CA357008501
767 P>R No ClinGen
ESP
ExAC
gnomAD
CA97636979
rs977418231
768 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2932453
rs766485057
769 I>M No ClinGen
ExAC
TOPMed
gnomAD
RCV001312545
CA2932452
rs574694774
769 I>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2932454
rs776981803
771 V>M No ClinGen
ExAC
gnomAD
CA357008525
rs1161315689
772 V>I No ClinGen
TOPMed
CA2932455
rs199816806
RCV001323699
773 Q>R No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1342172031
CA357008552
775 E>D No ClinGen
TOPMed
gnomAD
CA2932456
rs765650440
775 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1189478455
CA357008548
775 E>Q No ClinGen
TOPMed
rs61748756
CA2932457
776 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA357008555
rs1417816562
776 P>H No ClinGen
gnomAD
RCV001058129
rs1417816562
776 P>L No ClinVar
dbSNP
rs61748756
CA357008554
776 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA357008565
rs1438822320
778 Q>E No ClinGen
gnomAD
CA2932460
rs751048298
778 Q>H No ClinGen
ExAC
gnomAD
CA2932459
rs146786246
778 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756848835
CA2932461
779 M>I No ClinGen
ExAC
TOPMed
CA97637005
rs537388979
779 M>L No ClinGen
TOPMed
CA97637002
rs537388979
779 M>V No ClinGen
TOPMed
rs1059742
CA97637007
780 E>* No ClinGen
Ensembl
RCV001229697
CA97637009
rs1015434923
780 E>D No ClinGen
ClinVar
dbSNP
gnomAD
rs745537305
CA2932463
782 S>C No ClinGen
ExAC
gnomAD
CA97637018
rs370561076
783 P>L No ClinGen
gnomAD
CA2932464
rs755806745
RCV001305547
783 P>S No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2932465
rs577847008
784 P>L No ClinGen
1000Genomes
ExAC
rs946812694
CA97637022
785 M>I No ClinGen
TOPMed
CA2932467
rs140408965
785 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs543071771
CA2932466
785 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs867079701
CA97637026
786 G>E No ClinGen
TOPMed
gnomAD
rs867079701
CA357008613
786 G>V No ClinGen
TOPMed
gnomAD
rs774475413
CA2932468
787 V>L No ClinGen
ExAC
gnomAD
rs1414206080
CA357008622
788 V>A No ClinGen
TOPMed
CA2932469
rs747085895
790 K>E No ClinGen
ExAC
gnomAD
rs771051680
CA2932470
791 E>D No ClinGen
ExAC
gnomAD
CA97637036
rs923771558
791 E>K No ClinGen
TOPMed
rs368741258
CA97637047
793 A>S No ClinGen
ESP
TOPMed
CA357008664
rs1449789511
794 Q>H No ClinGen
gnomAD
CA2932473
VAR_029798
rs3796529
797 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764572450
CA2932476
798 P>L No ClinGen
ExAC
gnomAD
rs763356980
CA2932475
798 P>S No ClinGen
ExAC
gnomAD
rs752126612
CA2932477
799 P>L No ClinGen
ExAC
gnomAD
CA2932478
rs140815829
800 P>S No ClinGen
ESP
ExAC
TOPMed
rs1449982377
CA357008710
802 E>G No ClinGen
gnomAD
CA97637075
rs895101219
803 P>S No ClinGen
TOPMed
gnomAD
CA357008719
rs1268132542
804 P>S No ClinGen
TOPMed
gnomAD
rs767066151
CA2932479
805 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1166872019
COSM3714931
CA357008728
805 L>R upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
rs767066151
CA2932480
805 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA2932481
rs755818796
806 H>N No ClinGen
ExAC
gnomAD
CA2932482
rs372216068
807 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753660418
CA2932483
808 E>K No ClinGen
ExAC
gnomAD
rs1263966292
CA357008758
810 I>V No ClinGen
TOPMed
gnomAD
rs1211990605
CA357008768
811 S>C No ClinGen
TOPMed
CA357008774
rs1388447579
812 K>R No ClinGen
gnomAD
rs374822603
CA2932485
814 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357008787
rs754874352
814 P>S No ClinGen
ExAC
gnomAD
CA2932484
rs754874352
814 P>T No ClinGen
ExAC
gnomAD
rs114282228
CA2932488
815 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1430340
CA2932489
rs745977591
817 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357008806
rs1385520032
818 K>E No ClinGen
gnomAD
rs148677477
CA357008819
819 D>E No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA357008824
rs1578516139
820 K>T No ClinGen
Ensembl
RCV000677291
rs1553904359
822 E>missing No ClinVar
dbSNP
rs978194547
CA97637134
825 N>D No ClinGen
Ensembl
CA2932492
rs754996610
826 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA97637145
rs754996610
826 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs763298291
CA2932494
827 Q>H No ClinGen
ExAC
gnomAD
CA2932493
rs775747740
827 Q>R No ClinGen
ExAC
gnomAD
rs1207371267
CA357008882
828 S>N No ClinGen
gnomAD
RCV001054651
CA2932495
rs146942863
829 E>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1169086243
CA357008887
829 E>K No ClinGen
TOPMed
CA357008894
rs1421788780
830 R>G No ClinGen
TOPMed
CA357008898
rs1578516206
830 R>M No ClinGen
Ensembl
CA357008900
rs1464450663
830 R>S No ClinGen
gnomAD
RCV001037851
rs774780252
CA2932496
831 A>S No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2932498
rs766894826
832 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs367963860
RCV001303688
CA2932497
832 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA357008909
rs1186549954
833 K>Q No ClinGen
gnomAD
CA357008925
rs1455309474
835 Q>K No ClinGen
gnomAD
TCGA novel 836 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866545099
CA97637186
837 L>P No ClinGen
Ensembl
CA2932501
rs766112311
838 I>T No ClinGen
ExAC
gnomAD
CA2932504
rs778875167
839 E>D No ClinGen
ExAC
gnomAD
rs752540485
CA2932505
840 V>I No ClinGen
ExAC
gnomAD
TCGA novel 842 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932506
rs758327399
842 L>F No ClinGen
ExAC
gnomAD
rs564650387
CA2932507
843 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA357008989
rs1339003277
845 V>A No ClinGen
TOPMed
gnomAD
rs1312502963
CA357008987
RCV001348713
845 V>F No ClinGen
ClinVar
dbSNP
gnomAD
rs181578247
CA2932508
847 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA357009000
rs1241820239
847 D>H No ClinGen
gnomAD
CA357009013
rs1206868170
848 S>R No ClinGen
TOPMed
gnomAD
rs780183397
CA2932510
849 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1275958087
CA357009019
849 W>L No ClinGen
TOPMed
rs749525936
CA2932511
850 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA357009043
rs1182521923
853 E>G No ClinGen
gnomAD
CA2932514
rs143324668
RCV000882604
853 E>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1411109400
CA357009048
854 S>G No ClinGen
gnomAD
rs1471354248
CA357009062
856 S>G No ClinGen
TOPMed
gnomAD
rs1406128387
CA357009088
859 D>G No ClinGen
gnomAD
CA2932516
rs773645911
860 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA97637217
rs868705266
860 L>I No ClinGen
Ensembl
CA357009094
rs773645911
860 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA357009106
rs1300652443
862 P>L No ClinGen
gnomAD
rs1400586734
CA357009111
863 P>R No ClinGen
gnomAD
rs372493611
CA97637237
864 S>P No ClinGen
ESP
rs374232811
CA2932520
866 P>A No ClinGen
ESP
ExAC
gnomAD
rs753496340
CA357009138
868 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs753496340
CA2932521
868 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1174131327
CA357009136
868 P>S No ClinGen
TOPMed
rs759296836
CA2932522
871 N>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 871 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765022916
CA2932523
874 E>K No ClinGen
ExAC
gnomAD
rs1232885076
CA357009185
875 E>* No ClinGen
gnomAD
TCGA novel 880 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932524
rs200452180
882 L>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2932525
rs758185890
882 L>S No ClinGen
ExAC
gnomAD
CA357009240
rs1482052234
883 L>I No ClinGen
gnomAD
CA357009250
rs1560453233
884 N>K No ClinGen
Ensembl
rs144259100
CA2932527
885 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756127300
CA2932528
885 T>I No ClinGen
ExAC
gnomAD
CA357009261
rs1578516513
886 G>V No ClinGen
Ensembl
TCGA novel 887 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932529
rs780130348
888 G>E No ClinGen
ExAC
gnomAD
rs749471105
CA97637284
893 P>A No ClinGen
ExAC
gnomAD
rs755158365
CA2932531
893 P>L No ClinGen
ExAC
gnomAD
rs749471105
CA2932530
893 P>S No ClinGen
ExAC
gnomAD
rs1305477281
CA357009319
895 Q>H No ClinGen
TOPMed
gnomAD
CA357009317
rs1238004515
895 Q>R No ClinGen
Ensembl
CA2932535
rs371392326
897 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1430341
CA97637317
rs867829350
899 A>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs773713906
CA2932536
903 D>G No ClinGen
ExAC
gnomAD
CA357009368
rs1309512092
903 D>N No ClinGen
gnomAD
CA357009380
rs1273658722
904 E>D No ClinGen
gnomAD
rs747543922
CA2932537
905 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1351520978
CA357009384
905 S>N No ClinGen
gnomAD
CA97637325
rs1037391182
907 P>R No ClinGen
Ensembl
rs770528961
CA2932538
909 L>F No ClinGen
ExAC
gnomAD
RCV000937214
CA2932539
rs776254331
910 A>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs764969815
CA2932541
911 A>D No ClinGen
ExAC
gnomAD
rs759167194
CA2932540
911 A>T No ClinGen
ExAC
gnomAD
rs775073659
CA2932543
912 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA357009421
rs1226231366
912 N>Y No ClinGen
TOPMed
rs763808162
CA2932544
914 N>D No ClinGen
ExAC
gnomAD
rs757216362
CA357009437
914 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA2932545
rs751463729
914 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA2932547
COSM1056342
rs372214552
915 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2932548
rs753888665
916 S>Y No ClinGen
ExAC
gnomAD
CA2932549
rs374825536
918 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777215075
CA97637350
918 H>Y No ClinGen
Ensembl
rs1297121603
CA357009479
921 S>F No ClinGen
TOPMed
gnomAD
CA2932550
rs779188313
921 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs748320177
CA2932551
922 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA357009489
rs1247853778
923 G>E No ClinGen
gnomAD
rs1284461687
CA357009491
924 Q>E No ClinGen
gnomAD
CA357009495
rs1290561917
924 Q>R No ClinGen
gnomAD
CA2932553
rs557500462
927 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2932554
rs747423176
RCV001248568
COSM3409383
928 T>M Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1244469586
CA357009531
929 P>L No ClinGen
TOPMed
rs1245786650
CA357009538
930 E>D No ClinGen
gnomAD
rs1448099045
CA357009542
931 G>S No ClinGen
gnomAD
CA2932555
rs771546534
932 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs777335033
CA2932556
933 T>I No ClinGen
ExAC
gnomAD
CA2932558
rs769193151
934 L>S No ClinGen
ExAC
gnomAD
CA97637390
rs1048969204
935 N>S No ClinGen
TOPMed
rs1347101010
CA357009576
936 G>V No ClinGen
gnomAD
rs887450489
CA97637393
937 K>R No ClinGen
TOPMed
gnomAD
rs887450489
CA357009580
937 K>T No ClinGen
TOPMed
gnomAD
CA2932560
rs762533235
RCV001313088
938 H>R No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA2932559
rs775148858
938 H>Y No ClinGen
ExAC
gnomAD
rs889882721
CA97637397
940 T>I No ClinGen
TOPMed
gnomAD
CA97637402
RCV001319263
rs61312656
942 S>G No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 942 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932563
rs761641120
943 I>V No ClinGen
ExAC
gnomAD
rs1309039210
CA357009624
944 V>I No ClinGen
gnomAD
CA2932564
rs767425000
945 C>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 948 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA97637416
rs901618529
948 K>R No ClinGen
TOPMed
rs1207531505
CA357009664
949 M>T No ClinGen
gnomAD
CA2932565
rs199520565
951 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2932566
rs199520565
951 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000923812
CA2932568
rs148565623
952 D>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765258656
CA2932567
952 D>Y No ClinGen
ExAC
gnomAD
CA2932569
rs758521937
953 Q>E No ClinGen
ExAC
gnomAD
CA357009688
rs758521937
953 Q>K No ClinGen
ExAC
gnomAD
rs958211796
CA97637436
956 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 957 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357009720
rs1578516983
957 E>G No ClinGen
Ensembl
CA2932572
rs757762660
962 I>M No ClinGen
ExAC
gnomAD
CA2932573
rs200509833
965 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2932574
rs746393027
965 T>R No ClinGen
ExAC
gnomAD
CA2932576
rs769297005
966 V>A No ClinGen
ExAC
gnomAD
CA2932575
rs769297005
966 V>G No ClinGen
ExAC
gnomAD
CA2932577
rs748869206
967 E>D No ClinGen
ExAC
gnomAD
rs1186198032
CA357009781
967 E>G No ClinGen
TOPMed
CA357009795
rs1299865863
969 P>R No ClinGen
gnomAD
CA2932580
RCV001347368
rs761587815
970 V>D No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs774044957
CA357009798
970 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA2932579
rs774044957
970 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs771856015
CA2932581
972 P>L No ClinGen
ExAC
gnomAD
TCGA novel 972 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1385254403
CA357009817
973 M>I No ClinGen
gnomAD
rs773073831
CA2932582
973 M>V No ClinGen
ExAC
gnomAD
CA2932584
rs766383284
975 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs766383284
CA97637483
975 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs760563478
CA2932583
975 P>T No ClinGen
ExAC
gnomAD
TCGA novel 976 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932585
rs529390824
976 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA357009839
COSM3714933
rs1336617929
977 S>L upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
CA357009840
rs1483684662
978 A>S No ClinGen
gnomAD
COSM108589
rs140574038
CA97637488
980 E>K skin [Cosmic] No ClinGen
cosmic curated
gnomAD
COSM247006
CA2932587
rs764218596
981 E>D prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
RCV001058230
CA2932586
rs763155357
981 E>Q No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA2932589
rs200147565
982 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200147565
CA2932588
982 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781705605
CA2932590
982 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs781705605
CA357009870
982 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA357009871
rs1578517169
983 E>K No ClinGen
Ensembl
CA97637502
rs144529300
COSM110398
986 S>F skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA357009908
rs1172312135
988 T>I No ClinGen
gnomAD
rs145436917
CA97637509
988 T>P No ClinGen
Ensembl
rs780658486
CA2932593
990 L>P No ClinGen
ExAC
gnomAD
CA357009930
rs1560453737
992 S>L No ClinGen
Ensembl
rs748731008
CA2932594
993 P>L No ClinGen
ExAC
gnomAD
CA2932596
rs778468524
996 T>A No ClinGen
ExAC
gnomAD
CA357009957
rs1273927240
997 M>R No ClinGen
gnomAD
CA2932597
rs373733071
997 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1720989281
RCV001296645
998 A>T No ClinVar
dbSNP
CA2932598
rs771817079
998 A>V No ClinGen
ExAC
gnomAD
RCV001326110
rs1720989470
999 A>G No ClinVar
dbSNP
rs772963466
CA2932599
1000 N>S No ClinGen
ExAC
gnomAD
CA2932601
rs770764679
1002 S>T No ClinGen
ExAC
gnomAD
TCGA novel 1002 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357009992
rs1205147847
1003 Q>K No ClinGen
gnomAD
rs762874553
CA2932603
1003 Q>P No ClinGen
ExAC
gnomAD
rs1453449668
CA357009999
1004 E>* No ClinGen
gnomAD
rs1578517302
CA357010008
1005 I>V No ClinGen
Ensembl
CA2932605
rs764284810
1006 D>A No ClinGen
ExAC
gnomAD
CA97637552
rs775184173
1009 E>K No ClinGen
Ensembl
rs1560453803
CA357010051
1011 I>V No ClinGen
Ensembl
CA2932609
rs767890078
1014 H>Q No ClinGen
ExAC
gnomAD
rs1428868605
CA357010076
1014 H>R No ClinGen
gnomAD
rs1368071244
CA357010088
1016 G>R No ClinGen
TOPMed
CA2932610
rs750731942
1018 D>E No ClinGen
ExAC
gnomAD
CA357010110
rs1405828762
1019 L>V No ClinGen
gnomAD
CA357010117
rs1167234532
1020 S>N No ClinGen
TOPMed
CA2932611
rs756559394
1022 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA357010134
rs756559394
1022 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA97637560
rs916420522
1024 S>L No ClinGen
TOPMed
gnomAD
rs766787851
CA2932612
1026 G>D No ClinGen
ExAC
gnomAD
TCGA novel 1027 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2932614
rs559520154
1031 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs572949989
CA97637587
1033 H>P No ClinGen
1000Genomes
RCV001215115
rs572949989
1033 H>R No ClinVar
dbSNP
CA357010219
rs1359116352
1035 A>T No ClinGen
TOPMed
gnomAD
rs777464251
CA2932620
1036 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs777464251
CA2932619
1036 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA2932618
rs777464251
1036 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2932617
rs201033957
1036 R>W Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357010231
rs1490774064
1037 P>L No ClinGen
TOPMed
TCGA novel 1039 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369445358
CA97637598
1041 E>A No ClinGen
Ensembl
CA2932622
rs745842034
1043 S>G No ClinGen
ExAC
gnomAD
CA357010280
rs1248852548
1045 K>E No ClinGen
TOPMed
gnomAD
CA357010279
rs1248852548
1045 K>Q No ClinGen
TOPMed
gnomAD
rs768815266
CA2932623
1045 K>R No ClinGen
ExAC
gnomAD
rs1251981173
CA357010290
1046 N>I No ClinGen
TOPMed
TCGA novel 1046 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1204389518 1046 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001306516
rs1251981173
1046 N>S No ClinVar
dbSNP
CA357010304
rs1369937901
1048 K>R No ClinGen
TOPMed
gnomAD
CA2932625
rs762032850
1050 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs762032850
CA97637604
1050 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1306515151
CA357010333
1053 V>I No ClinGen
TOPMed
rs1320856752
CA357010343
1054 K>R No ClinGen
gnomAD
RCV001235209
CA2932630
rs201227059
1055 A>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1295869249
CA357010354
1056 A>D No ClinGen
gnomAD
CA97637623
rs529281885
1056 A>S No ClinGen
1000Genomes
rs867254323
CA97637627
1057 K>E No ClinGen
gnomAD
CA357010373
rs1464097351
1059 D>G No ClinGen
TOPMed
CA2932633
rs752194030
1059 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 1060 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376768817
CA357010380
1060 F>Y No ClinGen
TOPMed
CA2932634
rs757974590
1061 V>I No ClinGen
ExAC
gnomAD
TCGA novel 1064 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357010449
rs1268793336
1070 R>G No ClinGen
gnomAD
CA357010460
rs1464637092
1071 K>R No ClinGen
gnomAD
CA357010475
rs1176300291
1073 K>R No ClinGen
TOPMed
rs746688243
CA2932636
1074 D>N No ClinGen
ExAC
gnomAD
rs1481192169
CA357010495
1076 S>G No ClinGen
TOPMed
rs756954268
CA2932637
1077 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs116290363
CA2932638
1080 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1056348
rs745688107
CA2932639
1081 R>C large_intestine endometrium Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA357010581
RCV001212116
rs1385129832
1088 Y>C No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA357010586
rs1410495744
1089 L>F No ClinGen
TOPMed
gnomAD
CA357010601
rs1304212419
1091 E>A No ClinGen
TOPMed
gnomAD
CA357010603
rs1304212419
1091 E>G No ClinGen
TOPMed
gnomAD
CA97637659
rs867564643
1091 E>K No ClinGen
Ensembl
rs769830765
CA2932641
1092 A>S No ClinGen
ExAC
gnomAD
rs922903250
CA97637660
1095 G>E No ClinGen
TOPMed

4 associated diseases with Q13127

[MIM: 616806]: Wilms tumor 6 (WT6)

A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. {ECO:0000269|PubMed:26551668}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 617626]: Fibromatosis, gingival, 5 (GINGF5)

An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. {ECO:0000269|PubMed:28686854}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 612431]: Deafness, autosomal dominant, 27 (DFNA27)

A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. {ECO:0000269|PubMed:29961578}. Note=The disease may be caused by variants affecting the gene represented in this entry. An intronic variant that affects alternative splicing of REST and inactivation of REST repressor activity fully segregates with deafness in a 3-generation family. {ECO:0000269|PubMed:29961578}.

Without disease ID
  • A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. {ECO:0000269|PubMed:26551668}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. {ECO:0000269|PubMed:28686854}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. {ECO:0000269|PubMed:29961578}. Note=The disease may be caused by variants affecting the gene represented in this entry. An intronic variant that affects alternative splicing of REST and inactivation of REST repressor activity fully segregates with deafness in a 3-generation family. {ECO:0000269|PubMed:29961578}.

9 regional properties for Q13127

Type Name Position InterPro Accession
domain Zinc finger C2H2-type 159 - 186 IPR013087-1
domain Zinc finger C2H2-type 216 - 238 IPR013087-2
domain Zinc finger C2H2-type 248 - 270 IPR013087-3
domain Zinc finger C2H2-type 276 - 303 IPR013087-4
domain Zinc finger C2H2-type 304 - 331 IPR013087-5
domain Zinc finger C2H2-type 332 - 360 IPR013087-6
domain Zinc finger C2H2-type 361 - 388 IPR013087-7
domain Zinc finger C2H2-type 389 - 412 IPR013087-8
domain Zinc finger C2H2-type 1060 - 1082 IPR013087-9

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Colocalizes with ZFP90 in the nucleus (By similarity)
  • In response to hypoxia, there is a more pronounced increase in levels in the nucleus as compared to the cytoplasm (PubMed:27531581)
  • In aging neurons, increased levels in the nucleus as compared to the cytoplasm (PubMed:24670762, PubMed:30684677)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
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.
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.
transcription repressor complex A protein complex that possesses activity that prevents or downregulates transcription.

9 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 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 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.
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.
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 core promoter sequence-specific DNA binding Binding to a DNA sequence that is part of the core promoter of a RNA polymerase II-transcribed gene.
RNA polymerase II-specific DNA-binding transcription factor binding Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
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.

44 GO annotations of biological process

Name Definition
auditory receptor cell stereocilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of auditory hair cells.
cardiac muscle cell myoblast differentiation The process in which a relatively unspecialized cell acquires specialized features of a cardiac myoblast. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life.
cellular response to electrical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electrical stimulus.
cellular response to glucocorticoid stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.
cellular response to xenobiotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
detection of mechanical stimulus involved in sensory perception of sound The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal.
hematopoietic progenitor cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
histone H4 deacetylation The modification of histone H4 by the removal of one or more acetyl groups.
modification of synaptic structure Any process that modifies the structure/morphology of a synapse.
negative regulation by host of viral transcription Any process in which a host organism stops, prevents, or reduces the frequency, rate or extent of viral transcription.
negative regulation of aldosterone biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of aldosterone.
negative regulation of amniotic stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of amniotic stem cell differentiation.
negative regulation of calcium ion-dependent exocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of calcium ion-dependent exocytosis.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of cortisol biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process.
negative regulation of dense core granule biogenesis Any process that stops, prevents or reduces the frequency, rate or extent of dense core granule biogenesis.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of insulin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin.
negative regulation of mesenchymal stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal stem cell differentiation.
negative regulation of miRNA transcription Any process that stops, prevents or reduces the frequency, rate or extent of microRNA (miRNA) gene transcription.
negative regulation of neurogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system.
negative regulation of neuron differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.
negative regulation of oxidative stress-induced neuron death Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death.
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.
negative regulation of transcription regulatory region DNA binding Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding.
neuromuscular process controlling balance Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors.
neuronal stem cell population maintenance Any process in by an organism or tissue maintains a population of neuronal stem cells.
positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process.
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 gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of neuron differentiation Any process that activates or increases the frequency, rate or extent of neuron differentiation.
positive regulation of oxidative stress-induced neuron death Any process that activates or increases the frequency, rate or extent of oxidative stress-induced neuron death.
positive regulation of stem cell population maintenance Any process that activates or increases the frequency, rate or extent of stem cell population maintenance.
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 alternative mRNA splicing, via spliceosome Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of osteoblast differentiation Any process that modulates the frequency, rate or extent of osteoblast differentiation.
regulation of oxidative stress-induced neuron death Any process that modulates the frequency, rate or extent of oxidative stress-induced neuron death.
response to hypoxia 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 lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to ischemia Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
somatic stem cell population maintenance Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line.

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
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
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
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
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 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
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
Q8VIG1 Rest RE1-silencing transcription factor 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
MATQVMGQSS GGGGLFTSSG NIGMALPNDM YDLHDLSKAE LAAPQLIMLA NVALTGEVNG
70 80 90 100 110 120
SCCDYLVGEE RQMAELMPVG DNNFSDSEEG EGLEESADIK GEPHGLENME LRSLELSVVE
130 140 150 160 170 180
PQPVFEASGA PDIYSSNKDL PPETPGAEDK GKSSKTKPFR CKPCQYEAES EEQFVHHIRV
190 200 210 220 230 240
HSAKKFFVEE SAEKQAKARE SGSSTAEEGD FSKGPIRCDR CGYNTNRYDH YTAHLKHHTR
250 260 270 280 290 300
AGDNERVYKC IICTYTTVSE YHWRKHLRNH FPRKVYTCGK CNYFSDRKNN YVQHVRTHTG
310 320 330 340 350 360
ERPYKCELCP YSSSQKTHLT RHMRTHSGEK PFKCDQCSYV ASNQHEVTRH ARQVHNGPKP
370 380 390 400 410 420
LNCPHCDYKT ADRSNFKKHV ELHVNPRQFN CPVCDYAASK KCNLQYHFKS KHPTCPNKTM
430 440 450 460 470 480
DVSKVKLKKT KKREADLPDN ITNEKTEIEQ TKIKGDVAGK KNEKSVKAEK RDVSKEKKPS
490 500 510 520 530 540
NNVSVIQVTT RTRKSVTEVK EMDVHTGSNS EKFSKTKKSK RKLEVDSHSL HGPVNDEESS
550 560 570 580 590 600
TKKKKKVESK SKNNSQEVPK GDSKVEENKK QNTCMKKSTK KKTLKNKSSK KSSKPPQKEP
610 620 630 640 650 660
VEKGSAQMDP PQMGPAPTEA VQKGPVQVEP PPPMEHAQME GAQIRPAPDE PVQMEVVQEG
670 680 690 700 710 720
PAQKELLPPV EPAQMVGAQI VLAHMELPPP METAQTEVAQ MGPAPMEPAQ MEVAQVESAP
730 740 750 760 770 780
MQVVQKEPVQ MELSPPMEVV QKEPVQIELS PPMEVVQKEP VKIELSPPIE VVQKEPVQME
790 800 810 820 830 840
LSPPMGVVQK EPAQREPPPP REPPLHMEPI SKKPPLRKDK KEKSNMQSER ARKEQVLIEV
850 860 870 880 890 900
GLVPVKDSWL LKESVSTEDL SPPSPPLPKE NLREEASGDQ KLLNTGEGNK EAPLQKVGAE
910 920 930 940 950 960
EADESLPGLA ANINESTHIS SSGQNLNTPE GETLNGKHQT DSIVCEMKMD TDQNTRENLT
970 980 990 1000 1010 1020
GINSTVEEPV SPMLPPSAVE EREAVSKTAL ASPPATMAAN ESQEIDEDEG IHSHEGSDLS
1030 1040 1050 1060 1070 1080
DNMSEGSDDS GLHGARPVPQ ESSRKNAKEA LAVKAAKGDF VCIFCDRSFR KGKDYSKHLN
1090
RHLVNVYYLE EAAQGQE