Q8N9B8
PR
Gene name |
RASGEF1A |
Protein name |
Ras-GEF domain-containing family member 1A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221002 |
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 Q8N9B8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N9B8-F1 | Predicted | AlphaFoldDB |
296 variants for Q8N9B8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA376573536 rs375686822 |
2 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5477394 rs375686822 |
2 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168260538 CA376573533 |
3 | Q>* | No |
ClinGen gnomAD |
|
|
rs760968520 CA376573524 |
4 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA5477392 rs760968520 |
4 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs531161360 CA5477389 COSM918161 |
6 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1241943621 CA376573511 |
7 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA376573493 rs1204915894 |
9 | S>F | No |
ClinGen gnomAD |
|
|
CA376573492 rs1204915894 |
9 | S>Y | No |
ClinGen gnomAD |
|
|
rs1256631925 CA376573463 |
14 | P>T | No |
ClinGen gnomAD |
|
|
rs1406214705 CA376573445 |
16 | C>F | No |
ClinGen TOPMed |
|
|
rs964911633 CA206270206 |
17 | S>N | No |
ClinGen gnomAD |
|
|
rs369159217 CA376573437 |
17 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5477387 rs375885001 |
18 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373390556 CA5477386 |
19 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950717385 CA206270205 |
20 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA376573418 rs1340726398 |
21 | Q>K | No |
ClinGen TOPMed |
|
|
rs73256069 CA5477383 |
21 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5477382 rs781155802 |
22 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376573409 rs1352532517 |
22 | P>H | No |
ClinGen TOPMed |
|
|
rs1354852330 CA376573392 |
24 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA376573387 rs1482117311 |
25 | G>A | No |
ClinGen gnomAD |
|
|
rs754942717 CA376573378 |
26 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376573375 rs1588931087 |
27 | R>C | No |
ClinGen Ensembl |
|
|
rs746958914 CA5477380 COSM241360 |
27 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA376573373 rs746958914 |
27 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779612084 CA5477379 |
28 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5477376 rs764801376 |
30 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756936416 CA5477375 |
31 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs117610424 CA5477373 |
32 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117610424 CA5477372 |
32 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376573347 rs1471353044 |
33 | G>S | No |
ClinGen TOPMed |
|
|
rs569953656 CA5477370 |
34 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 34 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5477367 rs770091195 |
36 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5477366 rs774912639 |
42 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376573285 rs1321935613 |
42 | D>G | No |
ClinGen gnomAD |
|
|
rs867398879 CA206270203 |
43 | G>E | No |
ClinGen Ensembl |
|
|
rs1254131845 CA376573273 |
44 | H>L | No |
ClinGen Ensembl |
|
|
CA376573276 rs1304815523 |
44 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA376573274 rs1304815523 |
44 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA376573268 rs1337105209 |
45 | L>I | No |
ClinGen TOPMed |
|
|
CA5477364 rs768639399 |
46 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5477360 rs772048762 |
51 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5477359 rs745326983 |
52 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271160124 CA376573178 |
59 | P>A | No |
ClinGen TOPMed |
|
|
CA5477357 rs756884884 COSM1240010 |
60 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756884884 CA376573169 |
60 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA206270199 rs59308316 |
62 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 62 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179690572 CA376573151 |
63 | Y>C | No |
ClinGen TOPMed |
|
|
COSM3415040 CA376573133 rs1292802210 |
66 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA376572897 rs1456994215 |
69 | Y>D | No |
ClinGen TOPMed |
|
|
CA376572900 rs1456994215 |
69 | Y>N | No |
ClinGen TOPMed |
|
|
CA376572816 rs1205342001 |
76 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965817538 CA206269936 |
78 | R>W | No |
ClinGen Ensembl |
|
|
CA376572779 rs1367103477 |
79 | V>A | No |
ClinGen TOPMed |
|
|
rs1019696780 CA376572750 CA206269935 |
81 | M>I | No |
ClinGen gnomAD |
|
|
CA5477327 rs760971950 |
81 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs775128646 CA5477326 |
82 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759468392 CA5477324 |
83 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376572716 rs1405144280 |
84 | H>R | No |
ClinGen TOPMed |
|
|
rs889829063 CA206269933 |
85 | D>E | No |
ClinGen Ensembl |
|
|
CA376572704 rs1588929389 |
85 | D>N | No |
ClinGen Ensembl |
|
|
CA376572694 rs774335051 |
86 | L>M | No |
ClinGen ExAC |
|
|
CA5477322 rs770868644 |
86 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748730546 CA5477321 |
88 | A>T | No |
ClinGen ExAC |
|
|
CA5477320 rs772741835 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376572664 rs1408594097 |
89 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA376572666 rs1408594097 |
89 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA206269932 rs773897743 |
90 | V>L | No |
ClinGen gnomAD |
|
|
rs773897743 CA376572657 |
90 | V>M | No |
ClinGen gnomAD |
|
|
CA376572616 rs1476499223 |
93 | I>F | No |
ClinGen gnomAD |
|
|
rs1383525883 CA376572612 |
93 | I>T | No |
ClinGen gnomAD |
|
|
CA376572601 rs1296247645 |
94 | C>Y | No |
ClinGen TOPMed |
|
|
rs1445247018 CA376572593 |
95 | V>L | No |
ClinGen gnomAD |
|
|
rs1445247018 CA376572594 |
95 | V>M | No |
ClinGen gnomAD |
|
|
CA206269930 rs994738080 |
96 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 97 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs898993384 CA206269929 |
98 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA376572517 rs1271988172 CA376572515 |
100 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1341020891 CA376572491 |
103 | A>T | No |
ClinGen gnomAD |
|
|
CA5477314 rs746244025 |
104 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376572473 rs746244025 |
104 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376572464 rs1188610249 |
105 | P>L | No |
ClinGen TOPMed |
|
|
rs1382822819 CA376572468 |
105 | P>S | No |
ClinGen gnomAD |
|
|
rs1199120591 CA376571915 |
108 | A>S | No |
ClinGen TOPMed |
|
|
CA376571895 rs1184708288 |
109 | K>R | No |
ClinGen gnomAD |
|
|
rs776036615 CA5477281 |
110 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761316385 CA5477282 |
110 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1204160673 CA376571867 |
111 | K>N | No |
ClinGen gnomAD |
|
|
rs1021380293 CA376571820 |
115 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA206269775 rs1021380293 |
115 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs553793299 CA5477278 |
117 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376571785 rs771491443 |
118 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771491443 CA5477277 |
118 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386343195 CA376571768 |
119 | Q>R | No |
ClinGen gnomAD |
|
|
rs770211056 CA5477274 |
126 | E>K | Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376571683 rs1371398835 |
126 | E>V | No |
ClinGen gnomAD |
|
|
rs139592311 CA5477273 |
128 | F>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs752681979 CA5477272 |
130 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs752681979 CA376571635 |
130 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs751844022 CA5477270 |
135 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1164826990 CA376571549 |
136 | K>T | No |
ClinGen gnomAD |
|
|
rs758127770 CA5477268 |
137 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206269773 rs750185716 |
139 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5477267 rs750185716 |
139 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1254268097 CA376571502 |
140 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761676955 CA376571464 |
142 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA206269772 rs1050439733 |
143 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1292566397 CA376571453 |
143 | A>V | No |
ClinGen gnomAD |
|
|
rs374420086 CA5477262 |
147 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA206269771 rs374420086 |
147 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763310588 CA5477260 |
147 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763310588 CA5477259 |
147 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5477261 rs374420086 |
147 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390622611 CA376571404 |
148 | V>F | No |
ClinGen gnomAD |
|
|
CA376571390 rs1350832393 |
149 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5477258 rs773484533 |
150 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs770290985 CA5477257 |
151 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1364474429 CA376571339 |
153 | E>K | No |
ClinGen gnomAD |
|
|
rs1191152993 CA376571290 |
158 | V>L | No |
ClinGen TOPMed |
|
|
CA5477234 rs202118843 |
159 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376571271 rs1201546967 COSM371662 |
160 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1269867568 CA376571274 |
160 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376571268 rs1434445545 |
161 | A>T | No |
ClinGen TOPMed |
|
|
rs772314795 CA206269664 |
163 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772314795 CA5477233 |
163 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5477232 rs746115197 |
163 | A>V | No |
ClinGen ExAC |
|
|
CA376571253 rs1275101603 |
164 | Q>E | No |
ClinGen gnomAD |
|
|
rs1234918447 CA376571244 |
165 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427406274 CA376571220 |
168 | S>N | No |
ClinGen TOPMed |
|
|
rs1324225844 CA376571216 |
168 | S>R | No |
ClinGen gnomAD |
|
|
rs778762239 CA5477231 |
172 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA376571182 rs1457185308 |
174 | A>G | No |
ClinGen TOPMed |
|
|
rs571433329 CA5477229 |
175 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879095001 CA206269663 |
175 | A>T | No |
ClinGen Ensembl |
|
|
CA376571178 rs571433329 |
175 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 177 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291738551 CA376571171 |
177 | S>R | No |
ClinGen TOPMed |
|
|
rs777786691 CA5477228 |
177 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5477227 rs367950389 |
183 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403310036 CA376571118 |
184 | E>D | No |
ClinGen gnomAD |
|
|
CA376571110 rs1233165969 |
185 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588926845 CA376571104 |
186 | L>P | No |
ClinGen Ensembl |
|
|
rs766989032 CA5477225 |
187 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144867552 COSM1470271 CA5477226 |
187 | R>W | prostate Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5477224 rs754631497 |
189 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564528597 CA376571092 |
189 | P>S | No |
ClinGen Ensembl |
|
|
rs201933637 CA206266611 |
191 | V>G | No |
ClinGen Ensembl |
|
|
rs78581676 CA5477222 |
191 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 195 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5477220 rs777006800 |
196 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441670090 CA376571042 |
197 | L>R | No |
ClinGen gnomAD |
|
|
CA376571030 rs1201883436 |
199 | T>A | No |
ClinGen gnomAD |
|
|
CA5477217 rs144394346 |
199 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1201883436 CA376571031 |
199 | T>P | No |
ClinGen gnomAD |
|
|
rs144394346 CA5477218 |
199 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366681531 CA376571012 |
202 | P>A | No |
ClinGen gnomAD |
|
|
rs1366681531 CA376571011 |
202 | P>S | No |
ClinGen gnomAD |
|
|
CA376571007 rs1404088549 |
203 | A>T | No |
ClinGen gnomAD |
|
|
CA376571001 rs767084570 |
204 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5477213 COSM458832 rs767084570 |
204 | A>T | cervix large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1389962722 CA376570972 |
208 | I>V | No |
ClinGen gnomAD |
|
|
CA206266599 rs905237635 |
210 | G>S | No |
ClinGen TOPMed |
|
|
CA5477209 rs569429774 |
211 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA206266594 rs1010906270 |
213 | C>Y | No |
ClinGen Ensembl |
|
|
rs1161644660 CA376570929 |
214 | D>E | No |
ClinGen gnomAD |
|
|
CA376570935 rs1383423036 |
214 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs780752430 CA5477207 |
215 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388033756 CA376570917 |
217 | V>L | No |
ClinGen TOPMed |
|
|
CA376570896 rs1205379900 |
220 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376570864 rs1245974498 |
225 | I>V | No |
ClinGen gnomAD |
|
|
rs544272873 CA206266433 |
228 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768667173 CA5477188 |
228 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA376570825 rs1325492739 COSM1702276 |
229 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1398859569 CA376570811 |
231 | S>N | No |
ClinGen gnomAD |
|
|
rs1254981576 CA376570783 |
235 | P>S | No |
ClinGen TOPMed |
|
|
CA5477186 rs779659918 |
236 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426796485 CA376570769 |
237 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5477180 rs767872807 |
242 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5477181 rs77077330 |
242 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA206266405 rs77077330 |
242 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321800089 CA376570708 |
245 | M>T | No |
ClinGen gnomAD |
|
|
CA376570695 rs1226712262 |
247 | S>P | No |
ClinGen gnomAD |
|
|
rs1413774188 CA376570671 |
250 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360555225 CA376570631 |
254 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5477167 rs745393909 |
254 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390223853 CA376570616 |
256 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1255983835 CA376570596 |
259 | K>N | No |
ClinGen gnomAD |
|
|
rs748412258 CA5477164 |
260 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1204658363 CA376570579 |
262 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5477162 rs755412351 |
264 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752179523 CA5477161 |
266 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1425296844 CA376570546 |
267 | D>A | No |
ClinGen Ensembl |
|
|
CA5477154 rs764016510 |
283 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1412132319 CA376570385 |
288 | K>R | No |
ClinGen TOPMed |
|
|
CA376570374 rs1197489535 |
289 | H>Q | No |
ClinGen gnomAD |
|
|
CA376570371 rs1432716174 |
290 | R>Q | No |
ClinGen gnomAD |
|
|
rs748884172 CA5477128 |
292 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5477127 rs183373682 |
292 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5477126 rs769340017 |
293 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1207893820 CA376570334 |
296 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024709428 CA206266094 |
301 | A>S | No |
ClinGen TOPMed |
|
|
CA5477125 rs747346627 |
302 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM684311 rs1230580317 CA376570292 |
302 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs911318558 CA206266087 |
307 | I>V | No |
ClinGen TOPMed |
|
|
CA206266080 rs985514584 |
308 | G>R | No |
ClinGen TOPMed |
|
|
rs1432830996 CA376570241 |
309 | N>I | No |
ClinGen gnomAD |
|
|
rs1344044611 CA376570212 |
313 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1292648635 CA376570161 |
318 | S>Y | No |
ClinGen TOPMed |
|
|
rs1449997258 CA376570111 |
326 | A>T | No |
ClinGen gnomAD |
|
|
rs762843811 CA5477091 |
332 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA376570030 rs1275128231 |
337 | T>I | No |
ClinGen TOPMed |
|
|
rs1441582766 CA376570027 |
338 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5477090 rs749913475 |
339 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113529966 CA206266032 |
340 | F>C | No |
ClinGen Ensembl |
|
|
CA5477089 rs764718555 |
342 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200569855 CA5477056 |
347 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375060390 CA5477055 |
349 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375060390 CA376569934 |
349 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5477053 rs747257451 |
351 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA206265802 rs993959168 |
351 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs897927862 CA206265797 |
351 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 353 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588924764 CA376569886 |
356 | Y>S | No |
ClinGen Ensembl |
|
|
rs779882837 CA5477052 |
357 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA376569852 rs1328861745 |
361 | Q>H | No |
ClinGen gnomAD |
|
|
CA5477048 rs757282198 |
364 | T>A | No |
ClinGen ExAC |
|
|
rs753375542 CA5477047 |
364 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5477045 rs755825518 |
365 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1437200536 CA376569785 |
371 | N>K | No |
ClinGen gnomAD |
|
|
CA376569772 rs1588924695 |
373 | S>T | No |
ClinGen Ensembl |
|
|
rs748323851 CA206265775 |
374 | R>C | No |
ClinGen TOPMed |
|
|
rs917832003 CA376569766 |
374 | R>H | No |
ClinGen gnomAD |
|
|
CA206265772 rs917832003 |
374 | R>L | No |
ClinGen gnomAD |
|
|
CA376569765 rs917832003 |
374 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376569742 rs774977336 |
377 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs763163434 CA5477041 |
378 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5477040 rs773660442 |
383 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376569700 rs1422534943 |
384 | L>F | No |
ClinGen gnomAD |
|
|
rs762360778 CA376569689 |
385 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138913845 CA5477037 COSM918151 |
386 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138913845 CA5477036 |
386 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376569614 rs1218296579 |
396 | H>R | No |
ClinGen gnomAD |
|
|
CA5477033 rs772367967 |
396 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA5477032 rs745600285 |
397 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778899545 CA5477031 |
398 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1270762288 CA376569596 |
399 | H>Y | No |
ClinGen TOPMed |
|
|
CA5477030 rs770962017 |
402 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1305592593 CA376569562 |
403 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs925138723 CA206265733 |
405 | I>M | No |
ClinGen Ensembl |
|
|
rs1468207031 CA376569515 |
406 | N>Y | No |
ClinGen TOPMed |
|
|
CA376569281 rs1216140138 |
410 | F>C | No |
ClinGen gnomAD |
|
|
CA5477010 rs763702700 |
413 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747565826 CA5477008 |
416 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
rs1415004395 CA376569150 |
416 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs917509200 CA206265514 |
418 | H>Q | No |
ClinGen Ensembl |
|
|
CA5477007 rs75146387 |
421 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1239208736 CA376569068 |
421 | M>V | No |
ClinGen TOPMed |
|
|
CA376569035 rs1305645338 |
422 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920702094 CA206265510 |
426 | V>L | No |
ClinGen TOPMed |
|
|
rs148234005 CA5477006 |
427 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779691637 CA5477004 |
431 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 436 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754230916 CA5477002 |
437 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs764457749 CA5477001 |
438 | S>N | No |
ClinGen ExAC |
|
|
rs756692921 CA5476999 |
441 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767703853 CA5476997 |
442 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA376568669 rs1319766359 |
443 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1311739533 CA376568617 |
446 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410019334 CA376568592 |
447 | S>N | No |
ClinGen gnomAD |
|
|
rs1349128331 CA376568582 |
448 | E>K | No |
ClinGen TOPMed |
|
|
rs765150963 CA206265404 |
452 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376567723 COSM684313 rs1375844367 |
453 | V>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5476970 rs776561636 |
454 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776561636 COSM394596 CA206265401 |
454 | A>T | lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5476968 rs200708795 |
464 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1207800650 CA376567517 |
469 | S>G | No |
ClinGen gnomAD |
|
|
CA5476941 rs770523436 |
478 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA376567440 rs1429357603 |
479 | N>Y | No |
ClinGen TOPMed |
|
|
rs781461991 CA5476939 |
480 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542449479 CA5476938 |
481 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376567421 rs1446422846 |
482 | A>R | No |
ClinGen gnomAD |
No associated diseases with Q8N9B8
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of Ras protein signal transduction | Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07890 | SOS2 | Son of sevenless homolog 2 | Homo sapiens (Human) | SS |
| Q07889 | SOS1 | Son of sevenless homolog 1 | Homo sapiens (Human) | EV |
| Q13905 | RAPGEF1 | Rap guanine nucleotide exchange factor 1 | Homo sapiens (Human) | PR |
| O95398 | RAPGEF3 | Rap guanine nucleotide exchange factor 3 | Homo sapiens (Human) | EV |
| Q8WZA2 | RAPGEF4 | Rap guanine nucleotide exchange factor 4 | Homo sapiens (Human) | SS |
| Q8N431 | RASGEF1C | Ras-GEF domain-containing family member 1C | Homo sapiens (Human) | PR |
| Q8IZJ4 | RGL4 | Ral-GDS-related protein | Homo sapiens (Human) | PR |
| Q12967 | RALGDS | Ral guanine nucleotide dissociation stimulator | Homo sapiens (Human) | PR |
| O95267 | RASGRP1 | RAS guanyl-releasing protein 1 | Homo sapiens (Human) | EV |
| Q8TDF6 | RASGRP4 | RAS guanyl-releasing protein 4 | Homo sapiens (Human) | SS |
| Q7LDG7 | RASGRP2 | RAS guanyl-releasing protein 2 | Homo sapiens (Human) | EV SS |
| Q8IV61 | RASGRP3 | Ras guanyl-releasing protein 3 | Homo sapiens (Human) | SS |
| Q86X27 | RALGPS2 | Ras-specific guanine nucleotide-releasing factor RalGPS2 | Homo sapiens (Human) | PR |
| Q5JS13 | RALGPS1 | Ras-specific guanine nucleotide-releasing factor RalGPS1 | Homo sapiens (Human) | PR |
| Q9D300 | Rasgef1c | Ras-GEF domain-containing family member 1C | Mus musculus (Mouse) | PR |
| Q28EC1 | rasgef1b | Ras-GEF domain-containing family member 1B | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A0JM95 | rasgef1a | Ras-GEF domain-containing family member 1A | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPQTSVVFSS | ILGPSCSGQV | QPGMGERGGG | AGGGSGDLIF | QDGHLISGSL | EALMEHLVPT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VDYYPDRTYI | FTFLLSSRVF | MPPHDLLARV | GQICVEQKQQ | LEAGPEKAKL | KSFSAKIVQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKEWTEAFPY | DFQDEKAMAE | LKAITHRVTQ | CDEENGTVKK | AIAQMTQSLL | LSLAARSQLQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELREKLRPPA | VDKGPILKTK | PPAAQKDILG | VCCDPLVLAQ | QLTHIELDRV | SSIYPEDLMQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IVSHMDSLDN | HRCRGDLTKT | YSLEAYDNWF | NCLSMLVATE | VCRVVKKKHR | TRMLEFFIDV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ARECFNIGNF | NSMMAIISGM | NLSPVARLKK | TWSKVKTAKF | DVLEHHMDPS | SNFCNYRTAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QGATQRSQMA | NSSREKIVIP | VFNLFVKDIY | FLHKIHTNHL | PNGHINFKKF | WEISRQIHEF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MTWTQVECPF | EKDKKIQSYL | LTAPIYSEEA | LFVASFESEG | PENHMEKDSW | KTLRTTLLNR |
| A |