Q14CB8
PR
Gene name |
ARHGAP19 |
Protein name |
Rho GTPase-activating protein 19 |
Names |
Rho-type GTPase-activating protein 19 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84986 |
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 Q14CB8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14CB8-F1 | Predicted | AlphaFoldDB |
421 variants for Q14CB8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs892661592 CA212631282 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA212631273 rs1052632675 |
3 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1052632675 CA377915450 |
3 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1204989321 CA377915435 |
4 | E>G | No |
ClinGen gnomAD |
|
|
CA377915411 rs1436643097 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA212631263 rs928225152 |
6 | Q>E | No |
ClinGen TOPMed |
|
|
rs981042995 CA212631260 |
6 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759386281 CA377915364 |
7 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA377915357 rs1329156562 |
7 | S>N | No |
ClinGen TOPMed |
|
|
rs759386281 CA5629546 |
7 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA377915341 rs1299723839 |
7 | S>R | No |
ClinGen TOPMed |
|
|
CA5629545 rs774136530 |
8 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377915337 rs1265793564 |
8 | E>K | No |
ClinGen TOPMed |
|
|
CA5629544 rs770943387 |
9 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs773297476 CA5629542 |
10 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629543 rs373969394 |
10 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5629539 rs781620799 CA212631250 |
11 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781620799 CA5629540 |
11 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330276053 CA377915230 |
12 | P>A | No |
ClinGen gnomAD |
|
|
CA212631249 rs1025172839 |
12 | P>L | No |
ClinGen Ensembl |
|
|
rs1330276053 CA377915238 |
12 | P>S | No |
ClinGen gnomAD |
|
|
CA5629537 rs747438973 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1012364872 CA212631240 |
14 | R>C | No |
ClinGen gnomAD |
|
|
CA377915162 rs1475985118 |
14 | R>P | No |
ClinGen gnomAD |
|
|
CA377915170 rs1012364872 |
14 | R>S | No |
ClinGen gnomAD |
|
|
rs758889834 CA5629535 |
15 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758889834 CA377915144 |
15 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629534 rs752107486 |
16 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA212631225 rs752107486 |
16 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA212631219 rs1053952232 |
17 | G>D | No |
ClinGen Ensembl |
|
|
rs370213712 CA5629532 |
17 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370213712 CA377915059 |
17 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919132895 CA212631205 |
18 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs919132895 CA377915035 COSM69704 |
18 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs752335094 CA5629531 |
19 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767208237 CA5629530 |
19 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA377912737 rs1420539714 |
22 | I>F | No |
ClinGen gnomAD |
|
|
rs1187537755 CA377912727 |
22 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1474727519 CA377912717 |
23 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377912684 rs1198487836 |
25 | F>S | No |
ClinGen TOPMed |
|
|
rs754312797 CA212618101 |
29 | N>D | No |
ClinGen Ensembl |
|
|
CA377912616 rs1439925586 |
29 | N>K | No |
ClinGen Ensembl |
|
|
rs766920317 CA5629497 |
29 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377912576 rs1250249066 |
32 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1201879022 CA377912569 |
33 | L>I | No |
ClinGen gnomAD |
|
|
CA377912554 COSM1350167 rs1308783043 |
34 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5629495 rs771390013 COSM256336 |
34 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771390013 CA5629496 |
34 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5629494 rs749819502 |
37 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1353880860 CA377912484 |
39 | I>V | No |
ClinGen gnomAD |
|
|
CA377912460 rs1374502173 |
42 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1054224747 CA212618065 |
42 | P>R | No |
ClinGen Ensembl |
|
|
rs1374502173 CA377912459 |
42 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377912456 rs1430937380 |
43 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5629491 rs780627958 |
46 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs145373661 CA5629490 |
48 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5629489 rs751208157 |
50 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1463552103 CA377912364 |
50 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377912356 rs1445045775 |
51 | H>D | No |
ClinGen gnomAD |
|
|
CA5629488 rs779618728 |
51 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA212618021 rs952477745 |
54 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164407409 CA377912300 |
55 | E>K | No |
ClinGen gnomAD |
|
|
rs1300569074 CA377912238 |
59 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 63 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758178590 CA5629486 |
64 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5629485 rs750201004 |
64 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377912111 rs1589373172 |
67 | R>S | No |
ClinGen Ensembl |
|
|
CA5629483 rs761783370 |
68 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA212617992 rs1026767404 |
68 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs760723887 CA5629480 |
70 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5629478 rs761269336 |
72 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222557544 CA377912012 |
74 | T>I | No |
ClinGen TOPMed |
|
|
rs531509379 CA212617968 |
75 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA377911975 rs1305424741 |
77 | A>S | No |
ClinGen gnomAD |
|
|
CA377911969 rs1393657330 |
77 | A>V | No |
ClinGen gnomAD |
|
|
CA212617967 rs759836595 |
78 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs759836595 CA5629477 |
78 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA377911954 rs1325378652 |
79 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs774653351 CA5629476 |
80 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1407173427 CA377911895 |
85 | L>F | No |
ClinGen gnomAD |
|
|
rs1019437176 CA212617933 |
86 | K>N | No |
ClinGen TOPMed |
|
|
rs749732728 CA5629474 |
86 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629471 rs138934575 |
89 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377911825 rs1238236275 |
90 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1506315 rs1192518173 CA377911815 |
90 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs943647958 CA212617887 |
92 | G>S | No |
ClinGen Ensembl |
|
|
rs746537926 CA5629469 |
93 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201761042 CA212617871 COSM1350166 |
99 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs757936867 CA5629467 |
99 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA377911682 rs1336200313 |
100 | S>F | No |
ClinGen TOPMed |
|
|
CA212617854 rs113619816 |
101 | L>P | No |
ClinGen Ensembl |
|
|
CA377911669 rs1242013727 |
102 | M>T | No |
ClinGen TOPMed |
|
|
rs1243405543 CA377911664 |
103 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5629465 rs572239267 |
104 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757185815 CA5629464 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629463 rs559966746 |
107 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383664019 CA377911447 |
111 | V>L | No |
ClinGen gnomAD |
|
|
rs1432787938 CA377911423 |
112 | I>M | No |
ClinGen gnomAD |
|
|
CA212617198 rs977293842 |
112 | I>T | No |
ClinGen TOPMed |
|
|
CA377911434 rs1312133911 |
112 | I>V | No |
ClinGen gnomAD |
|
|
CA377911391 rs1275158265 |
114 | G>E | No |
ClinGen TOPMed |
|
|
rs971391873 CA212617192 |
114 | G>R | No |
ClinGen TOPMed |
|
|
CA377911370 rs1376735666 |
116 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM540303 rs554411827 CA212617180 |
118 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA377911321 rs1589372492 |
121 | G>C | No |
ClinGen Ensembl |
|
|
rs1488361598 CA377911303 |
124 | Q>E | No |
ClinGen TOPMed |
|
|
CA377911301 rs1474861014 |
124 | Q>R | No |
ClinGen gnomAD |
|
|
CA595396462 rs1257265788 |
126 | Y>* | No |
ClinGen gnomAD |
|
|
rs1478320473 CA377911286 |
126 | Y>C | No |
ClinGen gnomAD |
|
|
rs1194911047 CA377911288 |
126 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377911278 rs1209351894 |
127 | Q>P | No |
ClinGen gnomAD |
|
|
CA5629443 rs777657178 |
129 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629439 rs200669102 |
134 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377910970 rs1393326125 |
135 | N>K | No |
ClinGen gnomAD |
|
|
rs755945678 CA5629423 |
135 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs540212541 CA5629422 |
137 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377910959 COSM3808121 rs1394594504 |
137 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5629421 rs781253497 |
138 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629419 rs755015441 |
141 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs751594885 CA5629418 |
143 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234656940 CA377910916 |
144 | V>E | No |
ClinGen gnomAD |
|
|
rs1468117616 CA377910898 |
145 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1468117616 CA377910903 |
145 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1468117616 CA377910900 |
145 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1179388465 CA377910905 |
145 | P>S | No |
ClinGen gnomAD |
|
|
rs1385689137 CA377910877 |
147 | N>D | No |
ClinGen gnomAD |
|
|
rs940714076 CA212615970 |
147 | N>S | No |
ClinGen gnomAD |
|
|
rs1323224427 CA377910846 |
148 | S>R | No |
ClinGen gnomAD |
|
|
rs1290414480 CA377910830 |
149 | V>A | No |
ClinGen gnomAD |
|
|
rs1438709711 CA377910837 |
149 | V>I | No |
ClinGen TOPMed |
|
|
rs750660230 CA5629415 |
150 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750660230 CA377910822 |
150 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM169345 CA5629414 rs765513484 |
150 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs958278602 CA212615968 |
151 | Q>R | No |
ClinGen TOPMed |
|
|
rs1310775639 CA377910781 |
152 | Q>* | No |
ClinGen gnomAD |
|
|
rs917214009 CA212615963 |
152 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs183568670 CA212615957 |
156 | D>G | No |
ClinGen 1000Genomes |
|
|
rs141073658 CA5629413 |
158 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377910636 rs141073658 |
158 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764738646 CA5629411 |
159 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA377910474 rs1350824596 |
164 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773951889 CA5629409 |
168 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs370422691 CA5629407 |
169 | G>E | No |
ClinGen ESP TOPMed |
|
|
CA377910363 rs1453814439 |
170 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA212615933 rs770580121 |
170 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770580121 CA5629406 |
170 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377910331 rs1564723485 |
172 | H>P | No |
ClinGen Ensembl |
|
|
CA377910283 rs1589466166 |
175 | D>H | No |
ClinGen Ensembl |
|
|
CA377910264 rs1393357141 |
176 | V>I | No |
ClinGen gnomAD |
|
|
rs762449367 CA5629405 |
177 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA212615932 rs536639990 |
177 | A>T | No |
ClinGen gnomAD |
|
|
rs148180144 CA212615919 |
178 | T>A | No |
ClinGen ESP |
|
|
rs1419779008 CA377910230 |
179 | L>M | No |
ClinGen TOPMed |
|
|
CA377910202 rs1183997541 |
182 | M>I | No |
ClinGen TOPMed |
|
|
CA377910162 rs1288010867 |
188 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5629398 rs768527929 |
189 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs780040805 CA5629396 |
191 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA377910138 rs1220581072 |
193 | T>A | No |
ClinGen gnomAD |
|
|
rs148938316 CA5629394 |
194 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5629395 rs143651473 |
194 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377910126 rs1429004268 |
195 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377910127 rs1429004268 |
195 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5629392 rs560745609 |
196 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA212615854 rs989030917 |
198 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA377910099 rs1245113939 |
198 | N>K | No |
ClinGen TOPMed |
|
|
rs374503316 CA5629391 |
198 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377910097 rs1178388117 |
199 | A>T | No |
ClinGen gnomAD |
|
|
rs1293037116 CA377910090 |
200 | H>Y | No |
ClinGen gnomAD |
|
|
rs371204143 CA5629390 |
201 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371204143 CA212615838 |
201 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147897643 CA5629388 |
204 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5629370 rs559795470 |
207 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866026228 CA212612597 |
208 | Q>* | No |
ClinGen Ensembl |
|
|
CA5629369 rs756602026 |
208 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456218224 CA377908975 |
208 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1315369619 CA377908922 |
211 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1348553719 CA377908844 |
216 | T>I | No |
ClinGen TOPMed |
|
|
CA377908816 rs1372691334 |
218 | I>R | No |
ClinGen gnomAD |
|
|
CA5629367 rs768174288 |
219 | P>S | No |
ClinGen ExAC |
|
|
CA377908779 rs1296582807 |
221 | K>E | No |
ClinGen gnomAD |
|
|
CA377908734 rs1449249644 |
222 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377908721 rs1164517088 |
223 | R>Q | No |
ClinGen gnomAD |
|
|
COSM1506316 rs755467381 CA5629366 |
223 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA377908703 rs1460678270 |
224 | Q>K | No |
ClinGen gnomAD |
|
|
CA377908699 rs1366502842 |
224 | Q>P | No |
ClinGen gnomAD |
|
|
rs749913297 CA5629365 |
225 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166828484 CA377908678 |
225 | I>V | No |
ClinGen gnomAD |
|
|
CA212612517 rs897129514 |
226 | E>K | No |
ClinGen TOPMed |
|
|
CA5629364 rs529198934 |
227 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1249188258 CA377908602 |
228 | L>F | No |
ClinGen gnomAD |
|
|
CA5629363 rs562006800 |
228 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1023315615 CA377908577 |
229 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA212612509 rs1023315615 |
229 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5629361 rs763873213 |
234 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629359 rs61751502 |
238 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61751502 CA5629358 |
238 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774421534 CA5629356 |
239 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629355 rs765065175 |
240 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA377908335 rs765065175 |
240 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5629354 rs147811749 |
240 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756512166 CA5629352 |
242 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA5629351 rs748568049 |
243 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377908237 rs1388293331 |
244 | K>N | No |
ClinGen gnomAD |
|
|
rs1049845540 CA212612409 |
245 | L>S | No |
ClinGen TOPMed |
|
|
rs1334090794 CA377908181 |
246 | L>F | No |
ClinGen TOPMed |
|
|
rs755450100 CA5629349 |
246 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1315792241 CA377908157 |
247 | L>P | No |
ClinGen TOPMed |
|
|
rs1441503574 CA377908167 |
247 | L>V | No |
ClinGen TOPMed |
|
|
CA5629348 rs375097725 |
249 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377908109 rs375097725 |
249 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377908079 rs1156803243 |
250 | L>P | No |
ClinGen gnomAD |
|
|
rs1339751782 CA377908046 |
251 | Y>* | No |
ClinGen TOPMed |
|
|
CA5629347 rs764792796 |
251 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1589463163 CA377908063 |
251 | Y>S | No |
ClinGen Ensembl |
|
|
rs1197519960 CA377908037 |
252 | Q>* | No |
ClinGen TOPMed |
|
|
rs71486119 CA212612368 |
253 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs71486118 CA212612366 |
256 | K>N | No |
ClinGen Ensembl |
|
|
rs1449569116 CA377907937 |
257 | Q>R | No |
ClinGen gnomAD |
|
|
CA212612365 rs71486117 |
258 | D>A | No |
ClinGen Ensembl |
|
|
CA5629346 COSM1183372 rs756786403 |
259 | K>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 259 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5629345 rs753459687 |
261 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763785356 CA5629344 |
262 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219441401 CA377907834 |
264 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5629343 rs760342969 |
265 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244437801 CA377907783 |
267 | L>R | No |
ClinGen TOPMed |
|
|
rs1183715396 CA377907791 |
267 | L>V | No |
ClinGen TOPMed |
|
|
rs1589463114 CA377907748 |
270 | M>T | No |
ClinGen Ensembl |
|
|
CA5629341 rs767220075 |
272 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162465048 CA377907701 |
273 | P>L | No |
ClinGen TOPMed |
|
|
rs1209570701 CA377907705 |
273 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377907707 rs1209570701 |
273 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA377907685 rs2253301 |
274 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368253544 CA377907689 |
274 | H>R | No |
ClinGen TOPMed |
|
|
CA5629339 rs774211888 |
275 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA377907621 rs1387089604 |
279 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257376473 CA377907553 |
281 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5629324 rs374969932 |
287 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5629323 rs767328023 |
289 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA377907485 rs1253178599 |
291 | T>P | No |
ClinGen gnomAD |
|
|
rs1452386127 CA377907465 |
293 | L>F | No |
ClinGen TOPMed |
|
|
rs759314144 CA5629322 |
295 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759314144 CA377907455 |
295 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759314144 CA377907456 |
295 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867639610 CA212609515 |
298 | A>S | No |
ClinGen Ensembl |
|
|
rs1004393568 CA212609513 |
299 | F>L | No |
ClinGen Ensembl |
|
|
CA5629321 rs751480287 |
303 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs554472147 CA5629320 |
304 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5629319 rs763003145 |
305 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5629318 rs17112598 |
305 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5629317 rs17112598 VAR_031152 |
305 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs762116671 CA5629316 |
308 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377906138 rs754776649 |
310 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5629305 rs754776649 |
310 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA377906122 rs1332883075 |
311 | P>S | No |
ClinGen gnomAD |
|
|
rs1447155254 CA377906103 |
312 | A>V | No |
ClinGen gnomAD |
|
|
rs758200521 CA212602244 |
314 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5629303 rs766285121 |
315 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1407541980 CA377906068 |
315 | R>W | No |
ClinGen gnomAD |
|
|
CA377906057 rs1437844124 |
316 | E>K | No |
ClinGen gnomAD |
|
|
rs949384593 CA212602229 |
317 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs949384593 CA377906042 |
317 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5629302 rs372891158 |
318 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5629300 rs368568941 |
319 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368568941 CA377906008 |
319 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212602198 rs537912016 |
320 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5629299 rs145032100 |
321 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539710426 CA5629297 |
322 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776891701 CA5629298 |
322 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5629296 rs760989226 |
323 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775650464 CA5629295 |
325 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1043782108 CA212602178 |
326 | R>T | No |
ClinGen Ensembl |
|
|
rs772438117 CA5629294 |
327 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377905924 rs1564716044 |
328 | Q>E | No |
ClinGen Ensembl |
|
|
CA5629293 rs746359494 |
329 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5629283 rs765316964 |
332 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764238615 CA377905625 |
338 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764238615 CA5629280 |
338 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377905608 rs760750181 |
339 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629279 rs760750181 |
339 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629276 rs759932262 |
340 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629275 rs774814875 |
342 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212600743 rs374934512 |
343 | K>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377905493 rs1189069209 |
343 | K>M | No |
ClinGen TOPMed |
|
|
CA5629273 rs768545648 |
343 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs775950755 CA5629271 |
347 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775950755 CA212600732 |
347 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377905376 rs1178506266 |
348 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs746640001 CA5629269 |
349 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779896388 CA5629268 |
352 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5629266 rs529735004 |
353 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5629267 rs41284266 |
353 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373387760 CA5629264 |
355 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5629265 COSM238828 rs749253390 |
355 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781755482 CA212600687 |
356 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629263 rs781755482 |
356 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752884738 CA377905138 |
358 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148394645 CA5629261 |
358 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752884738 CA5629260 |
358 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996752934 CA377905107 |
359 | C>F | No |
ClinGen TOPMed |
|
|
rs767772571 CA5629259 |
359 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs996752934 CA212600659 |
359 | C>Y | No |
ClinGen TOPMed |
|
|
CA212600646 rs898389471 |
360 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1279320507 CA377905073 |
361 | H>P | No |
ClinGen gnomAD |
|
|
rs1038110732 CA212600640 |
361 | H>Y | No |
ClinGen Ensembl |
|
|
CA377905060 rs1351492129 |
362 | Q>* | No |
ClinGen TOPMed |
|
|
rs759774618 CA5629258 |
365 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377904941 rs1377051741 |
366 | Q>H | No |
ClinGen gnomAD |
|
|
rs766767679 CA5629256 |
367 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5629257 rs34038589 |
367 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5629254 rs773840412 |
368 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA5629255 rs756000965 |
368 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5629252 rs141595671 |
369 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 370 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564715224 CA377904770 |
373 | L>P | No |
ClinGen Ensembl |
|
|
CA377904776 rs1196070360 |
373 | L>V | No |
ClinGen TOPMed |
|
|
rs1410962092 CA377904739 |
375 | E>K | No |
ClinGen gnomAD |
|
|
rs938878566 CA212600593 |
377 | F>L | No |
ClinGen Ensembl |
|
|
rs1351291447 CA377904636 |
379 | H>Y | No |
ClinGen gnomAD |
|
|
rs778966332 CA5629248 |
380 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770816481 CA5629247 |
381 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371425301 CA212600583 |
383 | M>V | No |
ClinGen ESP TOPMed |
|
|
rs550503057 CA5629245 |
384 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5629246 rs749176890 |
384 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1259177553 CA377904495 |
385 | E>* | No |
ClinGen gnomAD |
|
|
rs1244678109 CA377904450 |
388 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1589451253 CA377904422 |
389 | K>* | No |
ClinGen Ensembl |
|
|
rs756124615 CA5629244 |
389 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs113796154 CA5629243 |
390 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781278690 CA5629242 |
391 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs111882812 CA5629241 |
393 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1307264433 CA377904348 |
394 | R>K | No |
ClinGen gnomAD |
|
|
rs1331553295 CA377904338 |
395 | Q>R | No |
ClinGen gnomAD |
|
|
CA377901514 rs1365233729 |
397 | N>I | No |
ClinGen gnomAD |
|
|
CA212595139 rs149625705 |
399 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5629224 rs149625705 |
399 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs966989218 CA212595126 |
400 | S>* | No |
ClinGen Ensembl |
|
|
CA212595125 rs1020292799 |
406 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751754099 CA5629222 |
407 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5629220 rs368950765 |
407 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5629221 rs368950765 |
407 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197735681 CA377901442 |
409 | P>S | No |
ClinGen gnomAD |
|
|
CA212595088 rs901299359 |
410 | S>P | No |
ClinGen Ensembl |
|
|
rs915941555 CA377901423 |
412 | S>C | No |
ClinGen TOPMed |
|
|
rs915941555 CA212595079 |
412 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1269997450 CA377901420 |
413 | Q>* | No |
ClinGen gnomAD |
|
|
CA5629218 rs757781028 |
415 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629217 rs757781028 |
415 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564711865 CA377901396 |
416 | K>N | No |
ClinGen Ensembl |
|
|
CA377901391 rs1201667467 |
417 | R>G | No |
ClinGen Ensembl |
|
|
rs559397638 CA377901367 |
418 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs559397638 CA212595055 |
418 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA212595041 rs1019639047 |
419 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs138319737 COSM3383119 CA5629216 |
419 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3935257 rs150490526 CA5629215 |
420 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5629214 rs150490526 |
420 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5629213 rs773852078 |
421 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766006395 CA5629212 |
421 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629211 rs762541390 |
422 | S>A | No |
ClinGen ExAC |
|
|
CA377901300 rs1303205144 |
423 | F>L | No |
ClinGen gnomAD |
|
|
CA377901273 rs769585651 |
424 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748060337 CA5629208 |
424 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs769585651 CA5629209 |
424 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776595110 CA5629207 |
426 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs371467055 CA5629206 |
427 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171632113 CA378242792 |
428 | K>R | No |
ClinGen gnomAD |
|
|
CA5629187 rs368334954 |
429 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5629188 rs368334954 |
429 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776434645 CA5629189 |
429 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775582529 CA5629186 |
430 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253482693 CA378242474 |
430 | K>R | No |
ClinGen TOPMed |
|
|
rs772103652 CA5629185 |
433 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1185464916 CA378242432 |
435 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1185464916 CA378242430 |
435 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746100796 CA5629184 |
437 | M>L | No |
ClinGen ExAC |
|
|
CA378242381 rs1444225108 |
438 | S>L | No |
ClinGen gnomAD |
|
|
CA378242379 rs1374391435 |
439 | E>* | No |
ClinGen TOPMed |
|
|
CA212430231 rs1056336846 |
439 | E>G | No |
ClinGen Ensembl |
|
|
CA212430221 rs993895810 |
442 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA212430215 rs926177655 |
446 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378242276 rs1340034708 |
446 | T>I | No |
ClinGen gnomAD |
|
|
CA378242280 rs926177655 |
446 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5629181 rs757672452 |
449 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs199927467 CA5629178 |
452 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5629179 rs368354404 |
452 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378242207 rs1398531572 |
453 | G>D | No |
ClinGen gnomAD |
|
|
rs143918340 CA5629177 |
455 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378242155 rs1410912489 |
457 | G>A | No |
ClinGen gnomAD |
|
|
CA5629175 rs757909991 |
458 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs779600031 CA5629176 |
458 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373943357 CA5629174 |
459 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473777353 CA378242142 |
459 | S>R | No |
ClinGen gnomAD |
|
|
CA378242125 rs1178239612 |
460 | K>R | No |
ClinGen gnomAD |
|
|
rs1269562369 CA378241932 |
470 | S>C | No |
ClinGen gnomAD |
|
|
rs77340648 CA212429661 |
471 | P>Q | No |
ClinGen Ensembl |
|
|
CA5629154 rs749899616 |
472 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1287272241 CA378241905 |
473 | V>G | No |
ClinGen gnomAD |
|
|
rs778403116 CA5629153 |
473 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5629152 rs756846192 |
474 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA5629150 rs538002721 |
475 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1339465768 CA378241885 |
475 | M>T | No |
ClinGen gnomAD |
|
|
rs1014650543 CA212429626 |
477 | P>L | No |
ClinGen gnomAD |
|
|
CA212429606 rs866532664 |
481 | K>R | No |
ClinGen Ensembl |
|
|
CA5629147 rs752655720 |
486 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA378241783 rs1163726769 |
487 | K>E | No |
ClinGen TOPMed |
|
|
CA5629146 rs767306060 |
487 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1283288424 CA378241762 |
490 | K>E | No |
ClinGen TOPMed |
|
|
rs759548911 CA5629143 |
490 | K>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 491 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q14CB8
No regional properties for Q14CB8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14CB8 | |||
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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| 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. |
| 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 |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATEAQSEGE | VPARESGRSD | AICSFVICND | SSLRGQPIIF | NPDFFVEKLR | HEKPEIFTEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VVSNITRLID | LPGTELAQLM | GEVDLKLPGG | AGPASGFFRS | LMSLKRKEKG | VIFGSPLTEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GIAQIYQLIE | YLHKNLRVEG | LFRVPGNSVR | QQILRDALNN | GTDIDLESGE | FHSNDVATLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KMFLGELPEP | LLTHKHFNAH | LKIADLMQFD | DKGNKTNIPD | KDRQIEALQL | LFLILPPPNR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLLKLLLDLL | YQTAKKQDKN | KMSAYNLALM | FAPHVLWPKN | VTANDLQENI | TKLNSGMAFM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IKHSQKLFKA | PAYIRECARL | HYLGSRTQAS | KDDLDLIASC | HTKSFQLAKS | QKRNRVDSCP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HQEETQHHTE | EALRELFQHV | HDMPESAKKK | QLIRQFNKQS | LTQTPGREPS | TSQVQKRARS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RSFSGLIKRK | VLGNQMMSEK | KKKNPTPESV | AIGELKGTSK | ENRNLLFSGS | PAVTMTPTRL |
| 490 | |||||
| KWSEGKKEGK | KGFL |