Q14765
PR
Gene name |
STAT4 |
Protein name |
Signal transducer and activator of transcription 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6775 |
EC number |
|
Protein Class |
|
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
1 structures for Q14765
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14765-F1 | Predicted | AlphaFoldDB |
413 variants for Q14765
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA62986893 rs906280014 |
2 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778760914 CA2031003 |
7 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA350002968 rs1363166746 |
9 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350002877 rs1418758324 |
21 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA62986892 rs934903650 |
22 | Y>C | No |
ClinGen Ensembl |
|
|
rs1184514035 CA350002848 |
25 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62986891 rs867270496 |
31 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766134008 TCGA novel CA2031000 |
32 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1294017171 CA350002759 |
38 | I>L | No |
ClinGen gnomAD |
|
|
CA350002736 rs1207353579 |
41 | Q>E | No |
ClinGen gnomAD |
|
|
rs761161672 CA2030996 |
42 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62986763 rs868421245 |
44 | E>G | No |
ClinGen Ensembl |
|
|
CA62986762 rs1003116465 |
46 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1381422972 CA350002680 |
47 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277833779 CA350002664 |
49 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 51 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350002642 rs1338661647 |
52 | M>T | No |
ClinGen TOPMed |
|
|
rs1308664127 CA350002632 |
53 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM2157267 rs750095435 CA2030975 |
54 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA350002616 rs1320919269 |
56 | L>F | No |
ClinGen gnomAD |
|
|
CA350002606 rs1284825965 |
58 | Q>E | No |
ClinGen gnomAD |
|
|
rs990725052 CA62986760 |
58 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350002536 rs1444276228 |
67 | Q>L | No |
ClinGen gnomAD |
|
|
rs1468059700 CA350002518 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350002517 rs751076320 COSM1288239 |
70 | R>H | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2030971 rs751076320 |
70 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62986759 rs267599129 |
72 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs763673195 CA2030970 |
73 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405872272 CA350002457 |
79 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA62986758 rs957846209 |
80 | I>M | No |
ClinGen TOPMed |
|
|
CA2030968 rs777271668 |
82 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1202108588 CA350002419 |
85 | R>K | No |
ClinGen gnomAD |
|
|
rs1462946559 CA350002414 |
86 | I>L | No |
ClinGen gnomAD |
|
|
rs202184860 CA2030966 |
87 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773503051 CA2030965 |
91 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349920612 rs1322131618 |
95 | H>R | No |
ClinGen TOPMed |
|
|
CA2030927 rs757999757 |
95 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2030926 rs752105122 |
99 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267779076 CA349920575 |
100 | H>L | No |
ClinGen gnomAD |
|
|
rs1267779076 CA349920576 |
100 | H>R | No |
ClinGen gnomAD |
|
|
CA2030925 rs778453112 |
101 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1196585329 CA349920571 |
101 | V>I | No |
ClinGen gnomAD |
|
|
rs756625612 CA2030924 |
104 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1337434431 COSM1014172 CA349920537 |
107 | N>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1337434431 CA349920535 |
107 | N>Y | No |
ClinGen gnomAD |
|
|
rs1287831571 CA349920510 |
110 | R>K | No |
ClinGen TOPMed |
|
| VAR_036002 | 112 | E>Q | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 112 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2030920 VAR_020190 rs3024839 RCV000917583 |
115 | I>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2030919 rs372012413 |
118 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2030918 rs763055396 |
120 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA349920391 rs1355355814 |
120 | N>S | No |
ClinGen TOPMed |
|
|
CA2030891 rs773188982 |
125 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA349919687 rs1451770735 |
125 | G>R | No |
ClinGen TOPMed |
|
|
CA349919681 rs1305163633 |
126 | P>S | No |
ClinGen TOPMed |
|
|
CA2030889 rs140675301 RCV001326416 |
128 | E>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1286913686 CA349919640 |
132 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 134 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62697584 rs899829959 |
141 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 141 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349919579 rs899829959 |
141 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA62697546 rs866566754 |
143 | V>G | No |
ClinGen Ensembl |
|
|
CA2030885 rs370819441 |
143 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370819441 CA2030886 |
143 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349919558 rs757804856 |
144 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349919550 rs1574130044 |
145 | H>Q | No |
ClinGen Ensembl |
|
|
CA349919544 rs1449256873 |
146 | K>R | No |
ClinGen gnomAD |
|
|
CA349919535 rs1340651373 |
147 | V>G | No |
ClinGen gnomAD |
|
|
rs747495835 CA2030883 |
148 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA62697523 rs778170459 |
149 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2030882 rs778170459 |
149 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938231505 CA349919504 CA62697507 |
152 | N>K | No |
ClinGen gnomAD |
|
|
rs1574130004 CA349919500 |
153 | S>N | No |
ClinGen Ensembl |
|
|
CA2030881 rs758720903 |
154 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA62697496 rs887698929 |
155 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2030868 rs376677137 |
156 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA62695636 rs906967754 |
156 | M>V | No |
ClinGen TOPMed |
|
|
rs372399682 CA62695630 |
157 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775033600 CA2030867 |
161 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559052991 CA349918799 |
162 | K>N | No |
ClinGen Ensembl |
|
|
rs1198723307 CA349918791 |
163 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1185323912 CA349918705 |
168 | Q>E | No |
ClinGen TOPMed |
|
|
CA349918674 rs1437812400 |
170 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1465000498 CA349918647 |
171 | F>Y | No |
ClinGen gnomAD |
|
|
rs778192508 CA2030863 |
174 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1047142705 CA62695560 |
175 | Y>* | No |
ClinGen Ensembl |
|
|
CA2030862 rs758709109 |
177 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1222308769 CA349918543 |
178 | I>V | No |
ClinGen gnomAD |
|
|
CA349918517 rs1393504305 |
179 | Q>L | No |
ClinGen TOPMed |
|
|
CA349918502 rs1364866424 |
180 | T>S | No |
ClinGen gnomAD |
|
|
CA2030860 rs779115246 |
181 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2030847 rs757114207 |
184 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482239088 CA349918199 |
184 | S>N | No |
ClinGen gnomAD |
|
|
CA349918176 rs1181051408 |
185 | D>E | No |
ClinGen gnomAD |
|
|
CA349918141 rs1242891280 |
187 | N>I | No |
ClinGen gnomAD |
|
|
CA349918137 rs1182171876 |
187 | N>K | No |
ClinGen gnomAD |
|
|
rs769304507 CA2030846 |
187 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2030845 rs543324204 |
190 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210136442 CA349918016 |
194 | E>K | No |
ClinGen gnomAD |
|
|
rs1315817328 CA349917975 |
196 | L>S | No |
ClinGen gnomAD |
|
|
rs1043051761 CA62693566 |
197 | T>K | No |
ClinGen Ensembl |
|
|
rs773619472 CA2030844 |
201 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2030843 rs144713478 |
204 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349917785 rs1314061236 |
206 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1394096459 CA349917760 |
207 | F>L | No |
ClinGen gnomAD |
|
|
rs757165202 CA62692754 |
212 | A>T | No |
ClinGen Ensembl |
|
|
rs1007048272 CA62692749 |
212 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145218540 CA2030821 |
214 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778253892 CA2030820 |
217 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2030818 rs749622712 |
219 | I>V | No |
ClinGen ExAC |
|
|
rs780454944 CA2030817 |
221 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349917309 rs1421052420 |
222 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62692727 rs994665092 |
225 | L>P | No |
ClinGen TOPMed |
|
|
rs770181391 CA2030816 |
227 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA62692716 rs983517785 |
229 | T>N | No |
ClinGen Ensembl |
|
|
rs746059460 CA2030815 |
230 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2030814 rs781395541 |
231 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs371181176 CA2030811 |
232 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2030812 rs746974489 |
232 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1282801873 CA349917173 |
232 | I>V | No |
ClinGen TOPMed |
|
|
CA62692662 rs1057075076 |
233 | E>K | No |
ClinGen TOPMed |
|
|
CA62692640 rs868401940 |
234 | E>D | No |
ClinGen Ensembl |
|
|
CA2030810 rs758217844 |
234 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA349917058 rs61756200 |
240 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2030809 COSM3736230 rs61756200 |
240 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA349917062 rs1280348818 |
240 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001344837 rs764990697 CA2030808 |
241 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA349917054 rs1321732910 |
241 | R>W | No |
ClinGen gnomAD |
|
|
CA349917008 rs557179689 |
244 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349917012 rs1574722792 |
244 | I>N | No |
ClinGen Ensembl |
|
|
CA2030806 rs201972198 |
245 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2030805 rs201972198 |
245 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2030804 rs760044145 |
245 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1574722755 CA349916996 |
246 | C>R | No |
ClinGen Ensembl |
|
|
rs927865408 CA62692588 |
246 | C>Y | No |
ClinGen TOPMed |
|
|
rs764656850 CA2030802 |
248 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2030800 rs776049747 |
252 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376556409 CA349916950 |
252 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2030799 rs770273474 |
253 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2030796 rs771061948 |
256 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259826437 CA349916915 |
257 | Q>R | No |
ClinGen gnomAD |
|
|
CA349916898 rs1406155106 |
259 | Q>H | No |
ClinGen TOPMed |
|
|
CA62692557 rs113436186 |
260 | N>D | No |
ClinGen Ensembl |
|
|
rs747018092 CA62692556 |
260 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62691562 rs779542390 |
265 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2030778 rs35279173 |
269 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 270 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571829920 CA62691535 |
271 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2030774 rs748082505 |
273 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs778762924 CA2030773 |
273 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309147163 CA349915982 |
277 | E>Q | No |
ClinGen TOPMed |
|
|
CA2030770 rs142125913 |
280 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750090759 CA2030768 |
284 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1224813392 CA349915925 |
285 | K>T | No |
ClinGen TOPMed |
|
|
CA349915913 rs780920887 CA2030767 |
286 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1292597944 CA349915916 |
286 | M>T | No |
ClinGen TOPMed |
|
|
CA349915911 rs1559049854 |
287 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA62691483 rs1045189793 |
290 | G>C | No |
ClinGen TOPMed |
|
|
rs1045189793 CA349915889 |
290 | G>S | No |
ClinGen TOPMed |
|
|
CA62691474 rs949674648 |
293 | I>F | No |
ClinGen Ensembl |
|
|
CA2030764 rs765796756 |
294 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760055169 CA2030763 |
295 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs754199351 CA2030762 |
297 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2030761 rs200982266 |
298 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262522306 CA349915778 |
300 | M>T | No |
ClinGen gnomAD |
|
|
rs1214589655 CA349915752 |
301 | L>I | No |
ClinGen gnomAD |
|
|
CA349915730 rs1356413880 |
302 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1287387742 CA349915677 |
304 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406319643 CA349915643 |
306 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349915646 rs1406319643 |
306 | F>S | No |
ClinGen gnomAD |
|
|
rs548245892 CA2030759 |
307 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761830960 CA2030757 |
308 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs772150342 CA2030758 |
308 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1355742046 CA349915585 |
309 | Y>C | No |
ClinGen gnomAD |
|
|
rs1296987566 CA349915553 |
310 | N>S | No |
ClinGen gnomAD |
|
|
CA2030754 rs749227253 |
311 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749227253 CA2030755 |
311 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779772586 CA349915516 |
312 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs779772586 CA2030753 |
312 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA349915474 COSM1014169 rs1574720694 |
313 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2030738 COSM1014168 rs143642103 |
320 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1405758156 CA349915218 |
323 | C>S | No |
ClinGen gnomAD |
|
|
rs1399751509 CA349915212 |
323 | C>Y | No |
ClinGen gnomAD |
|
|
CA2030735 rs769491603 |
324 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2030736 rs775435376 |
324 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1424401939 CA349915174 |
325 | P>L | No |
ClinGen gnomAD |
|
|
CA62690949 rs989036709 |
326 | T>A | No |
ClinGen Ensembl |
|
|
CA349915087 rs1248978329 |
331 | P>Q | No |
ClinGen gnomAD |
|
|
CA2030732 rs770753645 |
336 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA62690937 COSM1404137 rs941296401 |
340 | F>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs746642521 CA349914955 |
341 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2030731 rs746642521 |
341 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2030730 rs777211622 |
342 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1274749529 CA349914932 |
343 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2030729 rs757857474 |
344 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349914319 rs1374240747 |
348 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1302479885 CA349914315 |
349 | K>Q | No |
ClinGen gnomAD |
|
|
CA2030701 rs757553644 |
357 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751746803 CA2030700 |
361 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160760350 CA349914121 |
363 | I>F | No |
ClinGen gnomAD |
|
|
rs764332457 CA2030699 |
363 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1357283354 CA349914025 |
366 | N>K | No |
ClinGen Ensembl |
|
|
CA2030681 rs777972042 |
367 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1459780971 CA349913964 |
372 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768169551 CA2030669 |
373 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA349913959 rs1205627852 |
373 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA62688623 rs750700455 |
375 | F>L | No |
ClinGen Ensembl |
|
|
rs762403752 CA2030667 |
376 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1559047895 CA349913928 |
376 | V>I | No |
ClinGen Ensembl |
|
|
CA349913873 rs1447127105 |
381 | N>H | No |
ClinGen TOPMed |
|
|
rs771471597 CA2030665 |
382 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1194733770 CA349913859 |
382 | V>L | No |
ClinGen gnomAD |
|
|
rs376043190 COSM4133344 CA62688587 |
385 | M>I | thyroid [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
| TCGA novel | 385 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349913816 rs1266601736 |
385 | M>T | No |
ClinGen gnomAD |
|
|
rs1273647880 CA349913793 COSM476675 |
387 | I>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2030664 rs368876096 |
387 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA349913730 rs1198228238 |
392 | N>S | No |
ClinGen gnomAD |
|
|
CA2030663 rs199633613 |
393 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1228274775 CA349913668 |
397 | V>A | No |
ClinGen gnomAD |
|
|
rs1330972500 CA349913656 |
398 | E>G | No |
ClinGen gnomAD |
|
|
CA349913628 rs1040221969 |
400 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA62688574 rs1040221969 |
400 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2030645 rs775033790 |
403 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs200636478 CA2030643 |
404 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764645584 CA2030644 |
404 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA349912885 rs1308921436 |
407 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349912867 rs1164716591 |
409 | S>C | No |
ClinGen TOPMed |
|
|
rs1390679318 CA349912862 |
410 | S>G | No |
ClinGen TOPMed |
|
|
rs772506095 CA2030641 |
413 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 414 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353266416 CA349911602 |
419 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA349911524 rs1218971959 |
425 | E>D | No |
ClinGen TOPMed |
|
|
CA62678786 rs868583326 |
425 | E>G | No |
ClinGen Ensembl |
|
|
rs763858532 CA2030629 |
429 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA62678783 rs968005627 |
429 | I>V | No |
ClinGen TOPMed |
|
|
CA2030628 rs758109437 COSM1404135 |
430 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349911454 rs758109437 |
430 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414652458 CA349911342 |
436 | C>Y | No |
ClinGen TOPMed |
|
|
CA349911310 rs1356001770 |
438 | Y>C | No |
ClinGen TOPMed |
|
|
CA349911269 rs1430232250 |
442 | I>T | No |
ClinGen TOPMed |
|
|
rs764815073 CA2030626 |
442 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA62678745 rs866679884 |
445 | E>G | No |
ClinGen Ensembl |
|
|
rs1297504781 CA349911231 |
445 | E>K | No |
ClinGen gnomAD |
|
|
CA2030605 rs141331848 |
446 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs530278225 CA62677848 |
447 | S>R | No |
ClinGen TOPMed |
|
|
rs544508292 CA2030603 |
450 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349910964 rs1198519440 |
461 | P>S | No |
ClinGen gnomAD |
|
|
CA2030601 rs762476453 |
464 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA349910889 rs1335109291 |
467 | I>V | No |
ClinGen gnomAD |
|
|
CA349910839 rs1380306157 |
470 | Y>C | No |
ClinGen TOPMed |
|
|
CA349910829 rs1256812727 |
471 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA349910816 rs1325742273 |
472 | V>M | No |
ClinGen TOPMed |
|
|
CA2030598 rs146386562 |
475 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2030597 rs146386562 |
475 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349910763 rs1327713544 |
476 | D>G | No |
ClinGen gnomAD |
|
|
COSM1014165 CA2030595 rs759785386 |
476 | D>N | endometrium skin Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA62677806 rs759785386 |
476 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765625619 CA2030578 |
479 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA349910107 rs1376354446 |
479 | N>S | No |
ClinGen gnomAD |
|
|
rs769270663 CA349910094 |
481 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2030576 rs769270663 |
481 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1355167764 CA349910059 |
484 | N>K | No |
ClinGen gnomAD |
|
|
rs1333640618 CA349910057 |
485 | N>D | No |
ClinGen gnomAD |
|
|
CA2030575 rs771017653 |
485 | N>T | No |
ClinGen ExAC |
|
|
CA349910024 rs1439466042 |
488 | P>S | No |
ClinGen gnomAD |
|
|
rs1378912299 CA349910001 |
490 | T>K | No |
ClinGen gnomAD |
|
|
rs149621054 CA2030570 |
491 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3962104 CA349909975 rs1389143163 |
492 | S>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1416951111 CA349909904 |
497 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA62676058 rs1010398726 |
497 | V>M | No |
ClinGen Ensembl |
|
|
rs1205460471 CA349909898 |
498 | M>L | No |
ClinGen TOPMed |
|
|
CA349909890 rs1484618473 |
498 | M>T | No |
ClinGen gnomAD |
|
|
CA349909872 rs1282396345 |
499 | S>N | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1256467133 CA349909881 |
499 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 502 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349909800 rs1235014939 |
504 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA349909770 rs1477938637 |
506 | V>A | No |
ClinGen TOPMed |
|
|
CA2030565 rs749994944 |
506 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA349909749 rs1192576162 |
507 | G>V | No |
ClinGen TOPMed |
|
|
rs780829180 CA2030564 |
508 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2030563 rs376947712 |
508 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs780829180 CA349909746 COSM1014164 |
508 | R>S | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs147007636 CA2030562 |
513 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755317297 CA2030561 |
517 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA349909545 rs1314004125 |
517 | M>R | No |
ClinGen gnomAD |
|
|
rs755317297 CA2030560 |
517 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA62676010 rs1054195155 |
520 | E>Q | No |
ClinGen Ensembl |
|
|
rs1343769850 CA349909442 |
523 | T>S | No |
ClinGen gnomAD |
|
|
rs1259577677 CA349908575 |
526 | S>C | No |
ClinGen gnomAD |
|
|
CA349908576 rs1259577677 |
526 | S>Y | No |
ClinGen gnomAD |
|
|
CA349908556 rs1486064143 |
529 | S>G | No |
ClinGen gnomAD |
|
|
rs760335389 CA2030538 |
529 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349908551 rs1365762129 |
529 | S>R | No |
ClinGen gnomAD |
|
|
rs1212020747 CA349908545 |
530 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs147850919 CA349908530 |
532 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2030536 rs767596903 |
533 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1218110907 CA349908509 |
535 | W>* | No |
ClinGen gnomAD |
|
|
CA349908516 rs1228572445 |
535 | W>R | No |
ClinGen TOPMed |
|
|
CA2030535 rs761904937 |
536 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774187563 CA2030534 |
539 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 541 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765178000 CA2030512 |
542 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM107095 rs144091208 CA62674451 |
547 | S>L | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs998455229 CA62674453 |
547 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs373191999 CA62674443 |
550 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs776531286 CA2030510 |
551 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 551 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349908361 rs1252710156 |
555 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1196480246 CA349908350 |
556 | A>G | No |
ClinGen gnomAD |
|
|
CA349908327 rs1485599626 |
560 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760189410 CA2030508 |
566 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA62674438 rs866115797 |
567 | P>S | No |
ClinGen Ensembl |
|
|
rs930222758 CA62674343 |
573 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA62674336 rs868099569 |
575 | M>I | No |
ClinGen Ensembl |
|
|
CA349908169 rs1350322245 |
581 | E>K | No |
ClinGen TOPMed |
|
|
COSM1404134 CA62674312 rs779069171 |
584 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs779069171 CA2030487 |
584 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
VAR_047939 CA2030488 rs3024933 |
584 | R>W | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
CA62674280 rs199609035 |
586 | L>V | No |
ClinGen Ensembl |
|
|
CA2030486 rs761281261 |
591 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA349908100 rs1574692524 |
591 | M>K | No |
ClinGen Ensembl |
|
|
CA2030485 rs773810325 |
592 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317305981 CA349908081 |
594 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 596 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770306554 CA2030484 |
597 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201150110 CA2030483 |
602 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771192197 CA349907945 |
605 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771192197 CA2030481 |
605 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 615 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349907796 rs1242585998 |
616 | E>A | No |
ClinGen TOPMed |
|
|
rs777832373 CA2030479 |
617 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2030462 rs776987023 |
618 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 618 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962047809 CA349907694 |
619 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA349907683 rs1215254020 |
620 | V>A | No |
ClinGen gnomAD |
|
|
CA349907618 rs1271723949 |
625 | V>I | No |
ClinGen gnomAD |
|
|
rs1212691239 CA349907605 |
626 | E>Q | No |
ClinGen gnomAD |
|
|
CA2030459 rs149089413 |
632 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349907516 rs1226293129 |
632 | R>W | No |
ClinGen TOPMed |
|
|
CA2030457 rs369720896 |
638 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755096256 CA2030455 |
639 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755096256 CA349907431 |
639 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349907371 rs1481899244 |
643 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1193226178 CA349907306 |
648 | I>V | No |
ClinGen gnomAD |
|
|
CA62673974 rs980303842 |
649 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349907265 rs1412086117 |
651 | E>G | No |
ClinGen gnomAD |
|
|
rs1412086117 RCV001341751 |
651 | E>V | No |
ClinVar dbSNP |
|
|
rs749296968 CA2030454 |
653 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA349907252 rs1420870478 |
653 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2030452 rs756037985 |
657 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2030448 rs751205891 |
668 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2030446 rs762343259 |
672 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777230968 CA2030445 |
673 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2030443 rs761189841 |
677 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2030444 rs766821566 |
677 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1277796577 CA349906985 |
679 | P>L | No |
ClinGen gnomAD |
|
|
CA2030442 rs368928990 |
680 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349906979 rs1444471536 |
680 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1444471536 CA349906981 |
680 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1312794455 CA349906966 |
681 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA349906719 rs1412013869 |
684 | R>T | No |
ClinGen gnomAD |
|
|
CA349906714 rs1163611406 |
685 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 687 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761155615 CA2030417 |
688 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2030416 rs371989874 |
688 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768045385 CA2030415 |
688 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA349906691 rs1574690038 |
689 | G>S | No |
ClinGen Ensembl |
|
|
rs774816816 CA2030413 |
690 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs774816816 CA2030414 |
690 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs915485744 CA62672957 |
690 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs915485744 CA349906685 |
690 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1330106664 CA349906672 |
692 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 693 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 695 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768782205 CA2030412 |
697 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA349906449 rs1449832035 |
705 | R>* | No |
ClinGen gnomAD |
|
|
CA2030388 rs370218298 |
705 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA62672765 rs111535990 |
707 | D>G | No |
ClinGen Ensembl |
|
|
CA2030387 rs770874469 |
709 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA349906397 rs746885035 |
709 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746885035 CA2030386 |
709 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349906389 rs1195317909 |
710 | E>G | No |
ClinGen gnomAD |
|
|
rs752431273 CA62672750 |
712 | H>R | No |
ClinGen Ensembl |
|
|
CA2030385 rs772952207 |
712 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1206579181 CA349906356 |
715 | S>L | No |
ClinGen gnomAD |
|
|
rs771889653 CA2030384 |
726 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1390304797 CA349906167 |
730 | E>Q | No |
ClinGen gnomAD |
|
|
CA349906132 rs1430375004 |
735 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs908276985 CA62672714 |
736 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA349906112 rs1450518281 |
738 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 742 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3425884 CA62704387 rs773968889 |
744 | P>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773968889 CA2030364 |
744 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574687918 CA349931470 |
744 | P>S | No |
ClinGen Ensembl |
|
|
rs768437698 CA2030363 |
747 | A>V | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q14765
[MIM: 612253]: Systemic lupus erythematosus 11 (SLEB11)
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269|PubMed:17804842, ECO:0000269|PubMed:19109131}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 180300]: Rheumatoid arthritis (RA)
An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269|PubMed:17804842}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269|PubMed:17804842, ECO:0000269|PubMed:19109131}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269|PubMed:17804842}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
1 regional properties for Q14765
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Luciferase-like domain | 1 - 332 | IPR011251 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| identical protein binding | Binding to an identical protein or proteins. |
| 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| 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. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to peptide hormone | 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 peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P61635 | STAT3 | Signal transducer and activator of transcription 3 | Bos taurus (Bovine) | PR |
| Q6DV79 | STAT3 | Signal transducer and activator of transcription 3 | Gallus gallus (Chicken) | PR |
| P51692 | STAT5B | Signal transducer and activator of transcription 5B | Homo sapiens (Human) | PR |
| P52630 | STAT2 | Signal transducer and activator of transcription 2 | Homo sapiens (Human) | PR |
| P40763 | STAT3 | Signal transducer and activator of transcription 3 | Homo sapiens (Human) | PR |
| P42224 | STAT1 | Signal transducer and activator of transcription 1-alpha/beta | Homo sapiens (Human) | PR |
| P42229 | STAT5A | Signal transducer and activator of transcription 5A | Homo sapiens (Human) | PR |
| P42230 | Stat5a | Signal transducer and activator of transcription 5A | Mus musculus (Mouse) | PR |
| P42225 | Stat1 | Signal transducer and activator of transcription 1 | Mus musculus (Mouse) | PR |
| Q9WVL2 | Stat2 | Signal transducer and activator of transcription 2 | Mus musculus (Mouse) | PR |
| P42227 | Stat3 | Signal transducer and activator of transcription 3 | Mus musculus (Mouse) | PR |
| P42228 | Stat4 | Signal transducer and activator of transcription 4 | Mus musculus (Mouse) | PR |
| Q19S50 | STAT3 | Signal transducer and activator of transcription 3 | Sus scrofa (Pig) | PR |
| P52631 | Stat3 | Signal transducer and activator of transcription 3 | Rattus norvegicus (Rat) | PR |
| Q9NAD6 | sta-1 | Signal transducer and activator of transcription 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSQWNQVQQL | EIKFLEQVDQ | FYDDNFPMEI | RHLLAQWIEN | QDWEAASNNE | TMATILLQNL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LIQLDEQLGR | VSKEKNLLLI | HNLKRIRKVL | QGKFHGNPMH | VAVVISNCLR | EERRILAAAN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MPVQGPLEKS | LQSSSVSERQ | RNVEHKVAAI | KNSVQMTEQD | TKYLEDLQDE | FDYRYKTIQT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MDQSDKNSAM | VNQEVLTLQE | MLNSLDFKRK | EALSKMTQII | HETDLLMNTM | LIEELQDWKR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RQQIACIGGP | LHNGLDQLQN | CFTLLAESLF | QLRRQLEKLE | EQSTKMTYEG | DPIPMQRTHM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LERVTFLIYN | LFKNSFVVER | QPCMPTHPQR | PLVLKTLIQF | TVKLRLLIKL | PELNYQVKVK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ASIDKNVSTL | SNRRFVLCGT | NVKAMSIEES | SNGSLSVEFR | HLQPKEMKSS | AGGKGNEGCH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MVTEELHSIT | FETQICLYGL | TIDLETSSLP | VVMISNVSQL | PNAWASIIWY | NVSTNDSQNL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VFFNNPPPAT | LSQLLEVMSW | QFSSYVGRGL | NSDQLHMLAE | KLTVQSSYSD | GHLTWAKFCK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EHLPGKSFTF | WTWLEAILDL | IKKHILPLWI | DGYVMGFVSK | EKERLLLKDK | MPGTFLLRFS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESHLGGITFT | WVDHSESGEV | RFHSVEPYNK | GRLSALPFAD | ILRDYKVIMA | ENIPENPLKY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LYPDIPKDKA | FGKHYSSQPC | EVSRPTERGD | KGYVPSVFIP | ISTIRSDSTE | PHSPSDLLPM |
| 730 | 740 | ||||
| SPSVYAVLRE | NLSPTTIETA | MKSPYSAE |