O94844
PR
Gene name |
RHOBTB1 (KIAA0740) |
Protein name |
Rho-related BTB domain-containing protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9886 |
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 O94844
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O94844-F1 | Predicted | AlphaFoldDB |
511 variants for O94844
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs868135100 CA377012936 |
3 | A>D | No |
ClinGen gnomAD |
|
|
CA208330234 rs985478133 |
3 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs868135100 CA208330226 |
3 | A>V | No |
ClinGen gnomAD |
|
|
CA5514302 rs777664469 |
4 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA377012914 rs1322867187 |
6 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs369218859 CA5514300 |
7 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377012899 rs1479991467 |
8 | E>D | No |
ClinGen gnomAD |
|
|
CA5514297 rs750547263 |
8 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758661809 CA5514298 |
8 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA377012895 rs1384428493 |
9 | R>K | No |
ClinGen gnomAD |
|
|
CA208330195 rs937418432 |
11 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377012874 rs1283789785 |
12 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5514295 rs762038663 |
12 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377012853 rs1209473163 |
15 | I>S | No |
ClinGen gnomAD |
|
|
CA377012854 rs1209473163 |
15 | I>T | No |
ClinGen gnomAD |
|
|
rs1443285578 CA377012840 |
17 | C>Y | No |
ClinGen TOPMed |
|
|
rs764689756 CA5514293 |
18 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs754449195 CA5514294 |
18 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3686806 rs1277027672 CA377012825 |
20 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5514290 rs771638727 |
21 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5514289 rs759262815 |
22 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1419708947 CA377012801 |
23 | N>K | No |
ClinGen TOPMed |
|
|
CA377012795 rs866604965 |
24 | A>G | No |
ClinGen gnomAD |
|
|
CA208330139 rs866604965 |
24 | A>V | No |
ClinGen gnomAD |
|
|
rs773825770 CA5514288 |
25 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5514287 rs770808106 |
28 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA5514285 COSM1474693 rs777754426 |
29 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371467053 CA5514284 |
31 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474280482 CA377012742 |
33 | A>S | No |
ClinGen gnomAD |
|
|
rs1046307292 CA208330092 |
35 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748021475 CA5514283 |
38 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5514282 rs780114347 |
40 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA5514281 rs758372328 |
41 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213206991 CA377012669 |
44 | Q>P | No |
ClinGen gnomAD |
|
|
CA377012638 rs1339080624 |
49 | H>L | No |
ClinGen gnomAD |
|
|
rs1282275553 CA377012635 |
50 | V>M | No |
ClinGen TOPMed |
|
|
rs1392390567 CA377012613 |
53 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA208329995 rs918819438 |
55 | A>T | No |
ClinGen TOPMed |
|
|
CA377012592 rs1446611520 |
56 | I>T | No |
ClinGen gnomAD |
|
|
rs754238544 CA5514277 |
58 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs369069093 CA5514276 |
60 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5514274 rs753212767 |
60 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5514275 rs369069093 |
60 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA208329959 rs1022728014 |
61 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5514273 rs752611981 |
62 | C>G | No |
ClinGen ExAC |
|
| TCGA novel | 68 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772813661 COSM919352 CA5514246 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1001919478 CA208329660 |
70 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA377012482 rs1388550672 |
71 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 79 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5514243 rs761577600 |
80 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs765041776 CA5514244 |
80 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288859946 CA377012391 |
85 | T>A | No |
ClinGen gnomAD |
|
|
CA377012374 rs1411448254 |
87 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5514240 rs746902854 |
94 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514239 rs774295991 |
94 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs548480979 CA5514238 |
96 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750958498 CA208329597 |
97 | Y>C | No |
ClinGen TOPMed |
|
|
CA377012300 rs1303132347 |
98 | G>S | No |
ClinGen gnomAD |
|
|
rs1430918611 CA377012291 |
99 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 101 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1589216023 CA377010127 |
105 | L>V | No |
ClinGen Ensembl |
|
|
rs756903582 CA5514207 |
108 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1173618740 CA377010063 |
109 | I>T | No |
ClinGen gnomAD |
|
|
CA377010047 rs1467909493 |
110 | A>V | No |
ClinGen gnomAD |
|
|
rs753487210 CA5514206 |
112 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760494688 CA5514204 |
113 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA208316339 rs376582036 |
117 | H>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377009910 rs1183286806 |
120 | S>N | No |
ClinGen TOPMed |
|
|
CA377009892 rs1254611105 |
121 | M>T | No |
ClinGen TOPMed |
|
|
rs775420246 CA208316305 |
122 | W>* | No |
ClinGen Ensembl |
|
|
rs1227366226 CA377009882 |
122 | W>R | No |
ClinGen gnomAD |
|
|
rs939678519 CA208316299 |
124 | P>L | No |
ClinGen TOPMed |
|
|
rs1343187753 CA377009834 |
125 | E>A | No |
ClinGen gnomAD |
|
|
CA208316280 rs1048138390 |
131 | P>S | No |
ClinGen TOPMed |
|
|
CA5514199 rs769928956 |
134 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs768953750 CA5514196 |
135 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514197 rs139627798 |
135 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs796169201 CA208316279 |
136 | I>T | No |
ClinGen Ensembl |
|
|
rs1352261491 CA377009663 |
137 | L>P | No |
ClinGen TOPMed |
|
|
CA377009575 rs1307853299 |
143 | D>V | No |
ClinGen gnomAD |
|
|
CA208316278 rs921072723 |
144 | L>H | No |
ClinGen TOPMed |
|
|
rs375848133 CA5514193 |
145 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377009551 rs1170034974 |
145 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377009548 rs1170034974 |
145 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377009534 rs1410985860 |
146 | Y>* | No |
ClinGen gnomAD |
|
|
CA377009545 rs1254506523 |
146 | Y>H | No |
ClinGen TOPMed |
|
|
rs141139124 CA5514191 |
148 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371996872 CA5514190 |
151 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA208316277 rs371996872 |
151 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777448889 CA5514188 |
154 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377009430 rs1482269586 |
155 | A>T | No |
ClinGen TOPMed |
|
|
rs755927978 CA377009397 COSM3699927 |
157 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs755927978 CA5514187 |
157 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1277048664 CA377009385 |
158 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377009387 rs1177183141 |
158 | P>S | No |
ClinGen TOPMed |
|
|
CA5514185 rs182224237 |
160 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1284907776 CA377009347 |
161 | R>K | No |
ClinGen gnomAD |
|
|
CA377007929 rs1327094360 |
162 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774811069 CA5514170 |
163 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770398947 CA5514169 |
164 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748819845 CA5514168 |
165 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs748819845 CA377007889 |
165 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA377007872 rs1369709526 |
166 | G>A | No |
ClinGen TOPMed |
|
|
CA377007820 rs755796129 |
169 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA377007826 rs1179421072 |
169 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA377007798 rs1437064029 |
171 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377007804 rs1330179703 |
171 | P>T | No |
ClinGen gnomAD |
|
|
rs754778342 CA5514164 |
172 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1318670097 CA377007784 |
172 | E>G | No |
ClinGen TOPMed |
|
|
rs754778342 CA5514163 |
172 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751585869 CA5514162 |
174 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220716177 CA377007742 |
175 | R>* | No |
ClinGen TOPMed |
|
|
CA377007736 rs1157759221 |
175 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377007740 rs1157759221 |
175 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377007725 rs1457752475 |
176 | E>G | No |
ClinGen gnomAD |
|
|
rs1321602493 CA377007650 |
181 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5514160 rs142844286 |
182 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377007632 rs1247524904 |
183 | L>I | No |
ClinGen gnomAD |
|
|
CA5514159 rs753944672 |
190 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs529027366 CA5514157 |
192 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377007478 rs1477839797 |
193 | Q>E | No |
ClinGen TOPMed |
|
|
CA5514156 rs775653593 |
193 | Q>H | No |
ClinGen ExAC |
|
|
rs767912059 CA5514155 |
194 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219026393 CA377007440 |
195 | G>D | No |
ClinGen gnomAD |
|
|
CA377007433 rs1346079876 |
196 | I>V | No |
ClinGen gnomAD |
|
|
CA377007384 rs1442726725 |
199 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1420951634 CA377007347 |
201 | D>A | No |
ClinGen TOPMed |
|
|
rs1362556288 CA377007340 |
202 | N>D | No |
ClinGen gnomAD |
|
|
CA377007314 rs1435145020 |
203 | A>V | No |
ClinGen gnomAD |
|
|
CA377007308 rs1324040718 |
204 | I>V | No |
ClinGen TOPMed |
|
|
rs774898794 CA5514153 |
205 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377007297 rs774898794 |
205 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA208313700 rs367901643 |
205 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA5514152 rs771466394 COSM1223703 |
207 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5514148 rs747833492 |
212 | R>K | No |
ClinGen ExAC |
|
|
rs780959681 CA5514147 |
215 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5514146 rs768619047 |
217 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA5514144 rs779919751 |
224 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377006992 rs1209946752 |
227 | P>L | No |
ClinGen gnomAD |
|
|
rs150520523 CA5514141 |
229 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5514140 rs756158143 |
229 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA208313644 rs374879481 |
231 | A>T | No |
ClinGen ESP |
|
|
CA208313638 rs865784270 |
231 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA377006932 rs1341516763 |
232 | P>S | No |
ClinGen gnomAD |
|
|
rs752968691 CA377006907 |
234 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA377006876 rs1228518308 |
236 | P>Q | No |
ClinGen gnomAD |
|
|
rs141622630 CA5514138 |
238 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5514137 rs141622630 |
238 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs979036626 CA208313630 |
238 | A>V | No |
ClinGen gnomAD |
|
|
CA208313628 rs756288413 |
239 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs751927663 CA5514136 COSM919350 |
241 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1314535083 CA377006785 |
244 | K>E | No |
ClinGen gnomAD |
|
|
rs766595518 CA5514135 |
244 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514134 rs370159564 |
245 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 246 | P>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377006765 rs1430384731 |
247 | E>K | No |
ClinGen gnomAD |
|
|
CA5514132 rs202064331 |
248 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761383014 CA377006751 |
249 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377006748 rs1473436662 |
249 | P>L | No |
ClinGen gnomAD |
|
|
rs761383014 CA5514131 |
249 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413503026 CA377006746 |
250 | S>P | No |
ClinGen gnomAD |
|
|
rs140673515 CA208313561 |
257 | A>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377006697 rs140673515 |
257 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377006698 rs140673515 |
257 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5514128 rs142400059 |
258 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1205514259 CA377006676 |
260 | L>P | No |
ClinGen gnomAD |
|
|
rs779909004 CA5514127 |
261 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1296470218 CA377006671 |
261 | D>G | No |
ClinGen TOPMed |
|
|
rs1310015985 CA377006666 |
262 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5514126 rs766069785 |
262 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514125 rs745862226 |
263 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA377006648 rs1245626670 |
265 | C>G | No |
ClinGen TOPMed |
|
|
CA377006637 rs1294998542 |
266 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5514123 rs200600876 |
267 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5514122 rs752772350 |
273 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs781182864 CA5514121 |
276 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514120 rs755207476 |
279 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238775581 CA377006544 |
280 | A>P | No |
ClinGen TOPMed |
|
|
rs201980179 CA5514118 |
282 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201980179 COSM919348 CA5514117 |
282 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1472549007 CA377006527 |
283 | I>V | No |
ClinGen gnomAD |
|
|
CA208313460 rs372998480 |
286 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5514115 rs372998480 |
286 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377006504 rs1481432804 |
286 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 287 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA208313437 rs1047874548 |
289 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 292 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776281328 CA5514113 |
294 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514112 rs763636294 |
295 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5514111 rs760439934 |
300 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA208313416 rs936698673 |
302 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1415046350 CA377006397 |
302 | E>Q | No |
ClinGen TOPMed |
|
|
rs774977675 CA5514110 |
303 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771954784 CA5514109 |
306 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA377006370 rs1349780721 |
306 | G>W | No |
ClinGen gnomAD |
|
|
CA377006350 rs1392880424 |
309 | G>R | No |
ClinGen gnomAD |
|
|
rs758375261 CA208313403 |
310 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5514108 rs758375261 |
310 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs370757581 CA5514107 |
312 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770860544 CA5514106 |
313 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749166915 CA5514105 |
314 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781272487 CA5514104 |
316 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1348497 CA377006298 rs1457224165 |
316 | Q>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5514103 rs755011040 |
317 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA377006284 rs1161772071 |
318 | R>S | No |
ClinGen gnomAD |
|
|
CA377006281 rs1264843331 |
319 | D>A | No |
ClinGen gnomAD |
|
|
rs747295434 CA5514102 |
319 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5514100 rs200984963 COSM343874 |
323 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750307202 COSM1675277 CA5514101 |
323 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA208313334 rs1040510045 |
324 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1040510045 CA377006250 |
324 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5514097 rs757850098 |
326 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757850098 CA377006235 |
326 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767074971 CA5514092 |
328 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs775273962 CA5514093 COSM1603600 |
328 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775273962 CA377006224 |
328 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867343378 CA208313311 |
329 | P>S | No |
ClinGen Ensembl |
|
|
CA377006213 rs1373442573 |
330 | E>Q | No |
ClinGen gnomAD |
|
|
rs535070297 CA5514091 |
332 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183981765 CA5514090 |
334 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201499193 CA5514088 |
337 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377006159 rs201499193 |
337 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402947181 CA377006154 |
338 | P>L | No |
ClinGen TOPMed |
|
|
rs747044660 CA5514085 |
338 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454479318 CA377006139 |
341 | P>T | No |
ClinGen gnomAD |
|
|
CA377006131 rs1186151916 |
342 | Q>* | No |
ClinGen gnomAD |
|
|
rs1262355747 CA377006119 |
344 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200321800 CA5514083 |
345 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377006100 rs1482229019 |
346 | W>* | No |
ClinGen gnomAD |
|
|
rs1255244653 CA377006076 |
349 | S>L | No |
ClinGen gnomAD |
|
|
CA5514082 rs746041419 |
351 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5514081 rs145106523 |
352 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5514079 rs754449291 |
354 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA208313259 rs61754071 |
356 | A>V | No |
ClinGen Ensembl |
|
|
rs764687564 CA5514076 |
358 | G>R | No |
ClinGen ExAC |
|
|
rs913562866 CA208313209 |
358 | G>V | No |
ClinGen Ensembl |
|
|
rs759133913 CA5514072 |
360 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514073 rs766996774 |
360 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5514071 rs751173340 |
361 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs539243363 CA5514069 |
362 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5514067 rs769612708 |
363 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA5514068 rs769612708 |
363 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448500298 CA377005994 |
364 | A>T | No |
ClinGen gnomAD |
|
|
CA208313139 rs927796824 |
366 | P>L | No |
ClinGen TOPMed |
|
|
rs761739788 CA5514066 |
366 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775443874 CA5514065 |
368 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA5514062 rs200381691 CA5514063 |
373 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1425974283 TCGA novel CA377005931 |
374 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs901645557 CA208313091 |
375 | S>T | No |
ClinGen TOPMed |
|
|
CA5514060 rs749667833 |
376 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5514059 CA377005911 rs778219030 |
377 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM919347 rs756594632 CA5514058 |
378 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377005903 rs1242655998 |
378 | F>S | No |
ClinGen gnomAD |
|
|
rs1340426023 CA377005895 |
379 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528910555 CA5514057 |
381 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377005874 rs1564810744 |
382 | H>R | No |
ClinGen Ensembl |
|
|
CA208313069 rs763863421 |
384 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1468669689 CA377005844 |
386 | Q>P | No |
ClinGen TOPMed |
|
|
CA5514054 rs141467261 |
389 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377005820 rs1169177722 |
390 | I>V | No |
ClinGen gnomAD |
|
|
CA5514052 rs762801403 |
393 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514051 rs750221351 |
393 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM252780 CA5514053 rs762801403 |
393 | R>W | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765022264 CA5514050 |
395 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377005788 rs1589195440 |
395 | G>R | No |
ClinGen Ensembl |
|
|
CA5514049 rs139186815 |
396 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139186815 CA5514048 |
396 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377005773 rs1438646004 |
397 | M>I | No |
ClinGen gnomAD |
|
|
rs1181158209 CA377005778 |
397 | M>V | No |
ClinGen gnomAD |
|
|
rs772097297 CA5514047 |
398 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1208150771 CA377005761 |
399 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377005743 rs1442600507 |
402 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1355653025 CA377005728 |
404 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA377005729 COSM919346 rs1355653025 |
404 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA377005704 rs1327673311 |
407 | Q>H | No |
ClinGen gnomAD |
|
|
CA377005707 rs1194544932 |
407 | Q>R | No |
ClinGen TOPMed |
|
|
CA5514044 rs201037236 |
408 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs926622412 CA208312977 |
409 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 411 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749464528 CA5514042 |
412 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5514043 rs149990776 |
412 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778306728 CA5514041 |
413 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 414 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384572334 CA377005655 |
416 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377005657 rs1384572334 |
416 | Q>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 417 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140431485 CA5514038 |
420 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5514037 rs549539156 |
420 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470358347 CA377005624 |
421 | G>R | No |
ClinGen gnomAD |
|
|
rs779470409 CA5514035 |
422 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA377005619 rs779470409 |
422 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs758056325 CA5514034 |
424 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5514033 rs528236520 |
426 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5514032 rs764969898 |
426 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757042919 CA5514031 COSM1702538 |
429 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753780988 CA5514030 |
430 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1564808912 CA377005558 |
431 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1452721729 CA377005549 |
432 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA208312832 rs1019555258 |
433 | L>P | No |
ClinGen TOPMed |
|
|
rs918060404 CA208312831 |
435 | Q>* | No |
ClinGen TOPMed |
|
|
CA5514026 rs763301456 |
437 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5514025 rs763301456 |
437 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773452417 CA5514024 |
439 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5514023 rs770106523 |
441 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377005486 CA377005485 rs1298789691 |
442 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1317475876 CA377005489 |
442 | M>T | No |
ClinGen gnomAD |
|
|
CA5514022 rs748531794 |
442 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777070841 CA5514021 |
445 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1288308144 CA377005449 |
447 | M>I | No |
ClinGen TOPMed |
|
|
CA5514020 rs769153366 |
449 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5514019 rs747455774 |
452 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA208312792 rs772524250 |
453 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 454 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377005393 rs1186154618 |
455 | K>E | No |
ClinGen TOPMed |
|
|
rs745556636 CA5514016 |
457 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs745556636 CA5514017 |
457 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5514014 rs757070619 COSM175992 |
464 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1043963546 CA208312729 |
465 | K>R | No |
ClinGen TOPMed |
|
|
rs1043963546 CA208312737 |
465 | K>T | No |
ClinGen TOPMed |
|
|
CA377005294 rs756144123 |
468 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377005290 rs1303622911 |
469 | V>A | No |
ClinGen gnomAD |
|
|
rs752644143 CA5514010 |
469 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1440903134 CA377005270 |
472 | A>D | No |
ClinGen TOPMed |
|
|
CA5514007 rs376586969 |
473 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5514006 rs371277757 |
474 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377005259 rs1450912393 |
474 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1346865940 CA377005238 |
477 | E>G | No |
ClinGen gnomAD |
|
|
CA377005232 rs1422668131 |
478 | C>R | No |
ClinGen gnomAD |
|
|
CA377005229 rs1397408441 |
478 | C>Y | No |
ClinGen TOPMed |
|
|
CA377005221 rs1331988916 |
479 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 480 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777065584 CA5514004 |
484 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377005180 rs1418962500 |
485 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768956980 CA5514003 |
485 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs144676711 CA5513978 |
486 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 486 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5513976 rs777547474 |
487 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444465988 CA377004337 |
488 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs147417532 CA5513971 |
493 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139669589 CA5513972 |
493 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779078571 CA5513970 |
495 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5513969 rs757248573 |
496 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046919894 CA208311226 |
497 | S>N | No |
ClinGen TOPMed |
|
|
CA377004208 rs1276191921 |
497 | S>R | No |
ClinGen TOPMed |
|
|
rs754137226 CA5513968 |
498 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA377004166 rs760823262 CA5513966 |
499 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200154803 CA208311197 |
500 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5513965 rs753076884 |
501 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1424147523 CA377004103 |
504 | I>N | No |
ClinGen TOPMed |
|
|
rs201354939 CA5513962 |
506 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547856659 CA5513960 |
506 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5513959 rs773068196 |
507 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA5513958 rs769573997 |
508 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776590525 CA5513956 |
511 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768295520 CA5513955 |
513 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5513952 rs9665346 |
515 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5513953 rs9665346 |
515 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1351881910 CA377003919 |
516 | G>E | No |
ClinGen TOPMed |
|
|
rs1303837870 CA377003924 |
516 | G>R | No |
ClinGen TOPMed |
|
|
rs1589185667 CA377003908 |
517 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 517 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161701147 CA377003895 |
518 | F>S | No |
ClinGen gnomAD |
|
|
CA5513949 rs756356001 |
519 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777774851 CA5513950 |
519 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs752880669 CA5513948 |
520 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1363048774 CA377003863 |
521 | S>R | No |
ClinGen TOPMed |
|
|
rs866055146 CA208311078 |
522 | A>V | No |
ClinGen Ensembl |
|
|
rs767966043 CA5513947 |
523 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA377003825 rs1284634373 |
524 | S>I | No |
ClinGen gnomAD |
|
|
CA5513945 rs752168943 |
525 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1415061962 CA377001921 |
526 | V>L | No |
ClinGen gnomAD |
|
|
rs1376855610 CA377001911 |
527 | Y>H | No |
ClinGen gnomAD |
|
|
rs776476395 CA5513918 |
529 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5513916 rs749420885 |
530 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1172532124 CA377001838 |
532 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA377001836 rs1172532124 |
532 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs200317222 CA5513915 |
533 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377001811 rs1256607442 |
533 | K>N | No |
ClinGen gnomAD |
|
|
CA208306731 rs772549110 |
534 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 534 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5513914 rs771864912 |
536 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759513206 CA5513913 |
539 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1589154580 CA377001662 |
544 | Y>C | No |
ClinGen Ensembl |
|
|
CA208306717 rs538574768 |
545 | T>I | No |
ClinGen 1000Genomes |
|
|
CA377001630 rs1184943216 |
546 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA377001634 rs1253104192 |
546 | K>R | No |
ClinGen gnomAD |
|
|
CA5513910 rs748223686 |
549 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA5513909 rs781267854 |
549 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377001570 rs1232060743 |
550 | P>L | No |
ClinGen gnomAD |
|
|
rs1412193981 CA377001563 |
551 | N>T | No |
ClinGen TOPMed |
|
|
rs1334740005 CA377001511 |
555 | D>N | No |
ClinGen gnomAD |
|
|
rs768772092 CA5513908 |
556 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758804260 CA5513905 |
561 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs532317333 CA208306690 |
564 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751013426 CA5513904 |
567 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs756892181 CA5513902 |
570 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5513899 rs375846877 |
573 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 573 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 575 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377000951 rs1324585898 |
577 | Q>K | No |
ClinGen gnomAD |
|
|
CA377000940 rs1317404973 |
577 | Q>L | No |
ClinGen gnomAD |
|
|
COSM1321272 rs201889243 CA5513872 |
580 | V>I | Variant assessed as Somatic; 4.624e-05 impact. ovary pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA208305445 rs930725818 |
581 | Q>R | No |
ClinGen TOPMed |
|
|
rs1434330029 CA377000089 |
582 | E>V | No |
ClinGen gnomAD |
|
|
CA208305436 rs897880085 |
584 | T>N | No |
ClinGen Ensembl |
|
|
CA377000067 rs1195553042 |
584 | T>P | No |
ClinGen gnomAD |
|
|
CA5513865 rs749811459 |
587 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377000021 rs749811459 |
587 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5513864 rs778334665 |
587 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5513863 rs755647302 |
588 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5513862 rs199994411 |
588 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377000001 rs199994411 |
588 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5513860 rs752356271 |
590 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5513857 rs185682860 |
591 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA376999950 rs1161995478 |
592 | G>D | No |
ClinGen gnomAD |
|
|
CA376999942 rs1471014241 |
593 | I>V | No |
ClinGen TOPMed |
|
|
rs193102817 CA376999921 |
594 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1431387317 CA376999933 |
594 | D>N | No |
ClinGen gnomAD |
|
|
rs765212274 COSM3382944 CA5513855 |
595 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA376999898 rs1414441689 |
596 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs948129622 CA208305355 |
597 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1178347293 CA376999873 |
598 | L>F | No |
ClinGen gnomAD |
|
|
rs1178347293 CA376999876 |
598 | L>I | No |
ClinGen gnomAD |
|
|
rs1182734249 CA376999869 |
598 | L>P | No |
ClinGen gnomAD |
|
|
rs1408218385 CA376999859 |
599 | S>F | No |
ClinGen gnomAD |
|
|
CA5513853 rs376819942 |
600 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757237815 CA5513831 |
606 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs373904843 CA5513830 |
608 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5513829 rs767758396 |
610 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212838889 CA376999732 |
611 | Q>H | No |
ClinGen gnomAD |
|
|
CA376999736 rs1452182990 |
611 | Q>R | No |
ClinGen gnomAD |
|
|
rs751902137 CA5513827 |
612 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs138580713 CA5513825 |
614 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1348494 CA5513826 rs138580713 |
614 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA208303931 rs145125995 |
614 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1319214200 CA376999710 |
615 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376999690 rs1449024323 |
618 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5513822 rs370519361 |
619 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770016280 CA5513823 |
619 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1363682961 CA376999667 |
621 | C>S | No |
ClinGen gnomAD |
|
|
CA5513821 rs777098850 |
623 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157340090 CA376999633 |
626 | S>G | No |
ClinGen gnomAD |
|
|
rs768212439 CA5513820 |
626 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs148172627 CA208303917 |
629 | S>C | No |
ClinGen ESP |
|
|
rs1267671967 CA376999605 |
630 | K>T | No |
ClinGen TOPMed |
|
|
CA5513819 rs746517061 COSM1348492 |
632 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5513817 rs771766765 |
632 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771766765 CA5513818 |
632 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5513816 rs745459906 |
633 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5513815 rs199737157 |
634 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA208303892 rs776299624 |
635 | I>M | No |
ClinGen gnomAD |
|
|
rs758382974 CA5513789 |
641 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs758382974 CA208303610 |
641 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1284970401 CA376999517 |
642 | N>H | No |
ClinGen TOPMed |
|
|
rs1379304062 CA376999513 |
642 | N>S | No |
ClinGen gnomAD |
|
|
rs372833321 CA376999478 |
646 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376999467 rs369287909 |
648 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369287909 CA5513786 |
648 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5513787 rs548990779 |
648 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376999456 rs1272297738 |
650 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1484828070 CA376999455 |
650 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376999417 rs1257011824 |
655 | W>C | No |
ClinGen gnomAD |
|
|
rs754214593 CA5513785 |
656 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1490299842 CA376999382 |
660 | E>D | No |
ClinGen TOPMed |
|
|
rs1249671725 CA376999388 |
660 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs527417486 CA5513783 |
661 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767115133 CA5513781 |
665 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376999343 rs767115133 |
665 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5513780 rs143799442 |
665 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376999337 rs143799442 |
665 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376999333 rs773844848 |
666 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5513779 rs773844848 |
666 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA376999319 rs1311827211 |
667 | K>R | No |
ClinGen gnomAD |
|
|
rs15700 CA208303576 |
668 | R>K | No |
ClinGen Ensembl |
|
|
CA376999288 rs148931110 COSM3981056 |
670 | R>* | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs145680859 CA5513777 |
670 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376999279 rs1404174046 |
671 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1564726532 CA376999252 |
673 | E>A | No |
ClinGen Ensembl |
|
|
CA5513776 rs374936128 |
675 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769684346 CA376999231 |
676 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769684346 CA5513775 |
676 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5513774 rs748163791 |
678 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1043129298 CA208303545 |
678 | N>S | No |
ClinGen Ensembl |
|
|
rs372402462 CA5513773 |
679 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376999209 rs1425755474 |
680 | H>Y | No |
ClinGen gnomAD |
|
|
CA5513771 COSM919334 rs369886188 |
681 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs146356306 CA5513770 |
681 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5513772 rs369886188 |
681 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5513769 rs757491814 |
684 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5513768 rs754018377 |
684 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376999168 rs938546024 |
685 | K>M | No |
ClinGen gnomAD |
|
|
CA376999170 rs938546024 |
685 | K>R | No |
ClinGen gnomAD |
|
|
CA208303504 rs938546024 |
685 | K>T | No |
ClinGen gnomAD |
|
|
CA208303501 rs927109605 |
686 | W>C | No |
ClinGen Ensembl |
|
|
CA376999144 rs1285133329 |
687 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1341852967 CA376999080 |
692 | S>T | No |
ClinGen gnomAD |
|
|
CA208303492 rs979934323 |
692 | S>Y | No |
ClinGen Ensembl |
|
|
CA376999059 rs1193036812 |
694 | A>T | No |
ClinGen TOPMed |
|
|
CA5513765 rs753315710 |
695 | V>A | No |
ClinGen ExAC gnomAD |
No associated diseases with O94844
2 regional properties for O94844
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 266 - 457 | IPR000210-1 |
| domain | BTB/POZ domain | 476 - 583 | IPR000210-2 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| cortical cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
| engulfment of apoptotic cell | The removal of the apoptotic cell by phagocytosis, by a neighboring cell or by a phagocyte. |
| establishment or maintenance of cell polarity | Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
| regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P61585 | RHOA | Transforming protein RhoA | Bos taurus (Bovine) | PR |
| Q1RMJ6 | RHOC | Rho-related GTP-binding protein RhoC | Bos taurus (Bovine) | PR |
| Q17QI8 | Rhov | Rho-related GTP-binding protein RhoV | Bos taurus (Bovine) | PR |
| Q2HJ68 | RND1 | Rho-related GTP-binding protein Rho6 | Bos taurus (Bovine) | PR |
| Q3ZBW5 | RHOB | Rho-related GTP-binding protein RhoB | Bos taurus (Bovine) | PR |
| Q9PSX7 | RHOC | Rho-related GTP-binding protein RhoC | Gallus gallus (Chicken) | PR |
| P48148 | Rho1 | Ras-like GTP-binding protein Rho1 | Drosophila melanogaster (Fruit fly) | PR |
| O94955 | RHOBTB3 | Rho-related BTB domain-containing protein 3 | Homo sapiens (Human) | EV |
| P08134 | RHOC | Rho-related GTP-binding protein RhoC | Homo sapiens (Human) | PR |
| P61586 | RHOA | Transforming protein RhoA | Homo sapiens (Human) | PR |
| P61587 | RND3 | Rho-related GTP-binding protein RhoE | Homo sapiens (Human) | PR |
| P62745 | RHOB | Rho-related GTP-binding protein RhoB | Homo sapiens (Human) | PR |
| Q92730 | RND1 | Rho-related GTP-binding protein Rho6 | Homo sapiens (Human) | PR |
| Q96L33 | RHOV | Rho-related GTP-binding protein RhoV | Homo sapiens (Human) | PR |
| Q62159 | Rhoc | Rho-related GTP-binding protein RhoC | Mus musculus (Mouse) | PR |
| Q8BLR7 | Rnd1 | Rho-related GTP-binding protein Rho6 | Mus musculus (Mouse) | PR |
| Q9QUI0 | Rhoa | Transforming protein RhoA | Mus musculus (Mouse) | PR |
| P61588 | Rnd3 | Rho-related GTP-binding protein RhoE | Mus musculus (Mouse) | PR |
| Q8VDU1 | Rhov | Rho-related GTP-binding protein RhoV | Mus musculus (Mouse) | PR |
| P62746 | Rhob | Rho-related GTP-binding protein RhoB | Mus musculus (Mouse) | PR |
| Q9CTN4 | Rhobtb3 | Rho-related BTB domain-containing protein 3 | Mus musculus (Mouse) | SS |
| Q9DAK3 | Rhobtb1 | Rho-related BTB domain-containing protein 1 | Mus musculus (Mouse) | PR |
| O77683 | RND3 | Rho-related GTP-binding protein RhoE | Sus scrofa (Pig) | PR |
| Q6SA80 | Rnd3 | Rho-related GTP-binding protein RhoE | Rattus norvegicus (Rat) | PR |
| P62747 | Rhob | Rho-related GTP-binding protein RhoB | Rattus norvegicus (Rat) | PR |
| Q9Z1Y0 | Rhov | Rho-related GTP-binding protein RhoV | Rattus norvegicus (Rat) | PR |
| P61589 | Rhoa | Transforming protein RhoA | Rattus norvegicus (Rat) | PR |
| Q9SSX0 | RAC1 | Rac-like GTP-binding protein 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q6Z808 | RAC3 | Rac-like GTP-binding protein 3 | Oryza sativa subsp japonica (Rice) | PR |
| Q68Y52 | RAC2 | Rac-like GTP-binding protein 2 | Oryza sativa subsp japonica (Rice) | PR |
| Q67VP4 | RAC4 | Rac-like GTP-binding protein 4 | Oryza sativa subsp japonica (Rice) | PR |
| Q22038 | rho-1 | Ras-like GTP-binding protein rhoA | Caenorhabditis elegans | PR |
| Q9SU67 | ARAC8 | Rac-like GTP-binding protein ARAC8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O82480 | ARAC7 | Rac-like GTP-binding protein ARAC7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38903 | ARAC2 | Rac-like GTP-binding protein ARAC2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O82481 | ARAC10 | Rac-like GTP-binding protein ARAC10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDADMDYERP | NVETIKCVVV | GDNAVGKTRL | ICARACNTTL | TQYQLLATHV | PTVWAIDQYR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VCQEVLERSR | DVVDEVSVSL | RLWDTFGDHH | KDRRFAYGRS | DVVVLCFSIA | NPNSLNHVKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MWYPEIKHFC | PRTPVILVGC | QLDLRYADLE | AVNRARRPLA | RPIKRGDILP | PEKGREVAKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGLPYYETSV | FDQFGIKDVF | DNAIRAALIS | RRHLQFWKSH | LKKVQKPLLQ | APFLPPKAPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVIKIPECPS | MGTNEAACLL | DNPLCADVLF | ILQDQEHIFA | HRIYLATSSS | KFYDLFLMEC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EESPNGSEGA | CEKEKQSRDF | QGRILSVDPE | EEREEGPPRI | PQADQWKSSN | KSLVEALGLE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AEGAVPETQT | LTGWSKGFIG | MHREMQVNPI | SKRMGPMTVV | RMDASVQPGP | FRTLLQFLYT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GQLDEKEKDL | VGLAQIAEVL | EMFDLRMMVE | NIMNKEAFMN | QEITKAFHVR | KANRIKECLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KGTFSDVTFK | LDDGAISAHK | PLLICSCEWM | AAMFGGSFVE | SANSEVYLPN | INKISMQAVL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DYLYTKQLSP | NLDLDPLELI | ALANRFCLPH | LVALAEQHAV | QELTKAATSG | VGIDGEVLSY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LELAQFHNAH | QLAAWCLHHI | CTNYNSVCSK | FRKEIKSKSA | DNQEYFERHR | WPPVWYLKEE |
| 670 | 680 | 690 | |||
| DHYQRVKRER | EKEDIALNKH | RSRRKWCFWN | SSPAVA |