Q8N5T2
PR
Gene name |
TBC1D19 |
Protein name |
TBC1 domain family member 19 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55296 |
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 Q8N5T2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N5T2-F1 | Predicted | AlphaFoldDB |
330 variants for Q8N5T2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776655586 CA2881981 |
6 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1487600014 CA356668764 |
8 | L>V | No |
ClinGen gnomAD |
|
|
rs775186354 CA2881984 |
11 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356668784 rs1437238384 |
11 | I>V | No |
ClinGen TOPMed |
|
|
CA356668790 rs1477535025 |
12 | I>V | No |
ClinGen gnomAD |
|
|
rs1169954014 CA356668802 |
14 | Q>K | No |
ClinGen gnomAD |
|
|
rs896228833 CA94395201 |
15 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762678065 CA2881985 |
15 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1406883572 CA356668816 |
16 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2881986 rs763906547 |
19 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2881988 rs777971778 |
20 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777971778 CA2881989 |
20 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750913378 CA2881990 |
21 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1415246745 CA356668852 |
21 | G>V | No |
ClinGen TOPMed |
|
|
rs1340656451 CA356668857 |
22 | S>C | No |
ClinGen gnomAD |
|
|
rs1340656451 CA356668856 |
22 | S>F | No |
ClinGen gnomAD |
|
|
rs1276858189 CA356668860 |
23 | N>D | No |
ClinGen gnomAD |
|
|
CA356668878 rs1188460255 |
25 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2881994 rs755129845 |
27 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1257040944 CA356668901 |
29 | E>Q | No |
ClinGen gnomAD |
|
|
rs1218294846 CA356668912 |
30 | R>L | No |
ClinGen gnomAD |
|
|
CA356668913 rs1264156490 |
31 | Q>K | No |
ClinGen gnomAD |
|
|
CA2881996 rs746735899 |
32 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs757104656 CA2881997 |
32 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238300844 CA356668971 |
34 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2882018 rs765340384 |
40 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2882020 rs758594752 |
43 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2882021 rs781024280 |
51 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750307231 CA2882022 |
53 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA356669206 rs1274480326 |
53 | F>L | No |
ClinGen TOPMed |
|
|
rs1238603910 CA356669238 |
56 | I>M | No |
ClinGen gnomAD |
|
|
CA94398247 rs754659031 |
57 | S>P | No |
ClinGen Ensembl |
|
|
CA356669311 rs1451771292 |
58 | G>D | No |
ClinGen gnomAD |
|
|
rs765335073 CA2882038 COSM1429333 |
66 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752773650 CA356669429 |
68 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs752773650 CA2882039 |
68 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs763229488 CA2882041 |
72 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356669474 rs763229488 |
72 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2882062 rs762165581 |
75 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1478674997 CA356669517 |
76 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA94398931 rs867069194 |
80 | P>S | No |
ClinGen Ensembl |
|
|
rs147829007 CA2882063 |
81 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356669566 rs1373104351 |
84 | P>L | No |
ClinGen gnomAD |
|
|
rs754878696 CA2882065 |
84 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356669573 rs1382424174 |
85 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2882067 rs547994227 |
86 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1738953 rs757879727 CA2882068 |
87 | L>P | NS haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA94398932 rs1023334020 |
88 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA94398933 rs746639409 |
90 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2882070 rs746639409 |
90 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746639409 CA2882071 |
90 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2882074 rs770276986 |
91 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1260363567 CA356669611 |
92 | V>I | No |
ClinGen Ensembl |
|
|
rs775883585 CA2882075 COSM1485929 |
94 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356669636 rs1380282841 |
95 | R>M | No |
ClinGen gnomAD |
|
|
CA2882076 rs374861315 |
96 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2882077 rs768823733 |
97 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs769355044 CA2882100 |
99 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs893106091 CA94400627 |
102 | E>G | No |
ClinGen TOPMed |
|
|
rs893106091 CA356672831 |
102 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1424627850 | 104 | R>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356672916 rs1465974002 |
113 | C>F | No |
ClinGen gnomAD |
|
|
rs1425604061 CA356672913 |
113 | C>S | No |
ClinGen gnomAD |
|
|
CA2882103 rs772372452 |
115 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs760999769 CA2882105 |
119 | P>T | No |
ClinGen ExAC |
|
|
rs764921279 CA2882106 |
121 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs775410732 CA2882107 |
122 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2882108 rs199598813 COSM1054764 |
122 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1366364907 CA356672975 |
123 | K>M | No |
ClinGen gnomAD |
|
|
CA94400794 rs1023516395 |
125 | P>T | No |
ClinGen gnomAD |
|
|
CA2882121 rs777960715 |
126 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2882122 rs777960715 |
126 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469050081 CA356673023 |
129 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340558698 CA356673050 |
133 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356673080 rs1268919224 |
137 | N>H | No |
ClinGen gnomAD |
|
|
rs762746260 CA2882125 |
139 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2882124 rs775077861 |
139 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2882140 rs146958745 CA2882141 |
147 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934596895 CA94400923 |
152 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1310248609 CA356673206 |
153 | Y>F | No |
ClinGen gnomAD |
|
|
CA2882143 rs749041245 |
155 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768406719 CA94400924 |
157 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768406719 CA2882144 |
157 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407890971 CA356673230 |
157 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 158 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356673268 rs1560454056 |
161 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 161 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356673281 rs1179187244 |
163 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 164 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1753698 rs137972599 CA2882163 |
166 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs747990019 CA2882164 |
166 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747990019 CA356673305 |
166 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2882165 rs370647865 |
168 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141678431 CA2882166 |
169 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs541124301 CA2882167 |
170 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs375315712 CA2882168 |
172 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759262055 CA2882170 |
173 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1237161911 CA356673362 |
175 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs910156295 CA356673368 |
176 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA94403336 rs910156295 |
176 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 177 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775935197 CA2882172 |
179 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1240973587 CA356673391 |
179 | R>T | No |
ClinGen TOPMed |
|
|
CA94403337 rs1005198531 |
180 | T>S | No |
ClinGen Ensembl |
|
|
rs1282589158 CA356673402 |
181 | H>P | No |
ClinGen gnomAD |
|
|
CA2882174 rs150100634 |
181 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356673400 rs1577893851 |
181 | H>Y | No |
ClinGen Ensembl |
|
|
rs752073150 CA2882175 |
182 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213570058 CA356673415 |
183 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356673419 rs1251724192 |
184 | L>V | No |
ClinGen gnomAD |
|
|
CA2882176 rs757750941 |
185 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193783872 CA356673450 |
188 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451687747 CA356673463 |
190 | K>N | No |
ClinGen gnomAD |
|
|
CA2882178 rs750568010 |
193 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356673488 rs756272376 |
194 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs756272376 CA2882179 |
194 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs780278412 CA2882180 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356673509 rs1459519655 |
197 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1384095616 CA356673836 |
198 | K>E | No |
ClinGen gnomAD |
|
|
CA2882195 rs768016088 |
200 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1383225354 CA356673868 |
202 | V>L | No |
ClinGen gnomAD |
|
|
CA2882196 rs200202689 |
205 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760776138 CA2882197 |
208 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356673912 rs1355250730 |
209 | G>R | No |
ClinGen gnomAD |
|
|
rs201835858 CA356673934 |
212 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201835858 CA2882199 |
212 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2882201 rs777622519 |
213 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs755216227 CA2882200 |
213 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs982246337 CA94404013 |
214 | D>N | No |
ClinGen TOPMed |
|
|
rs751321101 CA2882202 |
214 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2882203 rs757200142 |
215 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2882204 rs781296941 |
216 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356673960 rs1380432026 |
217 | T>A | No |
ClinGen TOPMed |
|
|
rs769394005 CA2882206 |
219 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA94404014 rs769394005 |
219 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs909639466 CA94404015 |
221 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 223 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374947596 CA356674010 |
223 | L>V | No |
ClinGen TOPMed |
|
|
rs1191565148 CA356674027 |
225 | E>V | No |
ClinGen TOPMed |
|
|
rs7691219 CA2882230 CA356674044 |
227 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1222186676 CA356674042 |
227 | E>G | No |
ClinGen gnomAD |
|
|
CA356674039 rs1345390868 |
227 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367847052 CA2882231 |
230 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2882232 rs772405320 |
230 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356674063 rs1249763954 |
231 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2882241 rs767405158 |
236 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1291206697 CA356674118 |
237 | A>G | No |
ClinGen gnomAD |
|
|
CA2882244 rs756048874 |
240 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA356674137 rs1220166867 |
240 | D>H | No |
ClinGen gnomAD |
|
|
CA2882245 rs16878555 VAR_030602 |
241 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA356674164 rs1339976094 |
244 | A>S | No |
ClinGen TOPMed |
|
|
rs753348684 CA2882246 |
244 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417085850 CA356674168 |
245 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754415947 CA2882247 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1398017685 CA356674204 |
250 | Q>K | No |
ClinGen TOPMed |
|
|
CA2882248 rs372797439 |
252 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364483712 CA356674226 |
253 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA356674230 rs1422139178 |
253 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356674225 rs1364483712 |
253 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs149649528 CA2882249 |
254 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA356674292 rs1577914303 |
261 | W>* | No |
ClinGen Ensembl |
|
|
CA94404745 rs971107389 |
262 | A>V | No |
ClinGen TOPMed |
|
|
CA356674361 rs1443831817 |
266 | N>S | No |
ClinGen TOPMed |
|
|
CA356674379 rs1211601059 |
267 | I>T | No |
ClinGen gnomAD |
|
|
rs1314551608 CA356674391 |
268 | S>F | No |
ClinGen gnomAD |
|
|
CA2882253 rs771423756 |
270 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777031702 CA2882254 |
271 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777031702 CA356674424 |
271 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777428496 CA2882270 |
273 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2882271 rs771133814 |
274 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404333305 CA356674984 |
283 | N>D | No |
ClinGen gnomAD |
|
|
rs188852495 COSM1228576 CA2882273 |
287 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1329782563 CA356675031 |
289 | L>P | No |
ClinGen gnomAD |
|
|
rs1335247886 CA356675040 |
291 | V>M | No |
ClinGen gnomAD |
|
|
rs559779411 CA2882274 |
293 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2882275 rs770397371 |
293 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2882276 rs113170760 |
295 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749390978 CA2882277 |
297 | K>T | No |
ClinGen ExAC TOPMed |
|
|
CA2882290 rs781403101 |
302 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750803099 CA2882291 |
303 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA356675408 rs1202559191 TCGA novel |
304 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
| TCGA novel | 309 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995119829 CA94406219 |
312 | F>Y | No |
ClinGen Ensembl |
|
|
rs1267309905 CA356675476 |
313 | E>G | No |
ClinGen gnomAD |
|
|
CA356675471 rs1222402157 |
313 | E>K | No |
ClinGen gnomAD |
|
|
rs1449116119 CA356675512 |
318 | Q>* | No |
ClinGen gnomAD |
|
|
CA2882316 rs537114943 |
319 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA356673538 rs1432554333 |
321 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356673540 rs1432554333 |
321 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356673546 rs1338315099 |
322 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356673557 rs1328994936 |
324 | S>T | No |
ClinGen TOPMed |
|
|
CA2882319 rs778091482 |
325 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758503442 CA2882318 |
325 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2882321 rs769550724 |
327 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA356673580 rs1387251128 |
328 | S>P | No |
ClinGen TOPMed |
|
|
rs1180357844 CA356673585 |
329 | V>M | No |
ClinGen TOPMed |
|
|
rs1023191689 CA94409479 |
331 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356673608 rs1577979714 |
332 | H>P | No |
ClinGen Ensembl |
|
|
CA356673607 rs1233490496 |
332 | H>Y | No |
ClinGen TOPMed |
|
|
rs1205927662 CA356673631 |
335 | F>S | No |
ClinGen gnomAD |
|
|
CA356673639 rs1264113633 |
336 | N>S | No |
ClinGen gnomAD |
|
|
rs1461078418 CA356673644 |
337 | S>G | No |
ClinGen gnomAD |
|
|
rs749216018 CA2882323 |
337 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA356673652 rs1252831912 |
338 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2882324 rs377374054 |
339 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 340 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1267456 rs761406601 CA2882326 |
342 | K>E | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1455468585 CA356673683 |
343 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362075452 CA356673696 |
345 | I>V | No |
ClinGen TOPMed |
|
|
rs1345287707 CA356673735 |
348 | K>N | No |
ClinGen gnomAD |
|
|
CA356673732 rs1281815771 |
348 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1282297561 CA356673740 |
349 | L>P | No |
ClinGen TOPMed |
|
|
CA94409689 rs951276552 |
354 | Y>H | No |
ClinGen Ensembl |
|
|
CA356673776 rs1214137015 |
355 | A>S | No |
ClinGen gnomAD |
|
|
rs1308338868 CA356673796 |
358 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2882352 rs753221692 |
359 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2882354 rs763431703 |
362 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2882353 rs763431703 |
362 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA356674283 rs770176902 |
363 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2882373 rs770176902 |
363 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775789429 CA356674293 |
364 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2882375 rs763453669 |
364 | I>N | No |
ClinGen ExAC |
|
|
rs775789429 CA2882374 |
364 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1578001175 CA356674312 |
365 | P>L | No |
ClinGen Ensembl |
|
|
rs1369959297 CA356674307 |
365 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 368 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 370 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356674376 rs1187553340 |
370 | S>P | No |
ClinGen gnomAD |
|
|
CA356674386 CA2882376 rs764525151 |
371 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751592628 CA2882377 |
371 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769339979 CA2882394 |
374 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs957504075 CA94411643 |
375 | P>L | No |
ClinGen Ensembl |
|
|
CA2882395 rs775868853 |
375 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs991379718 CA94411644 |
380 | Y>* | No |
ClinGen Ensembl |
|
|
CA2882396 rs563489042 |
381 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA94411645 rs1022564194 |
381 | H>Y | No |
ClinGen Ensembl |
|
|
rs375128598 CA94411646 |
383 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356674524 rs1248300752 |
384 | S>F | No |
ClinGen TOPMed |
|
|
CA94411647 rs1044546048 |
385 | K>* | No |
ClinGen TOPMed |
|
|
CA356674542 rs1451290787 |
387 | Y>C | No |
ClinGen TOPMed |
|
|
rs769114111 CA2882397 |
387 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs769114111 CA356674539 |
387 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA356674547 rs1227682362 |
388 | Q>E | No |
ClinGen gnomAD |
|
|
rs774810818 CA2882398 |
388 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA94411648 rs774810818 |
388 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762357052 CA2882399 |
389 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs767572031 CA2882400 |
391 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2882401 rs763211377 |
391 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA94411649 rs768839812 |
396 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2882402 rs760892521 |
396 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766531998 CA2882403 |
398 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA356674639 rs1578006101 |
401 | L>P | No |
ClinGen Ensembl |
|
|
CA2882404 rs752495919 |
402 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2882405 rs144542050 |
404 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356674665 rs1460287358 |
405 | S>F | No |
ClinGen gnomAD |
|
|
rs1400284981 CA356674683 |
408 | P>H | No |
ClinGen gnomAD |
|
|
rs751409489 CA2882426 |
411 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2882427 rs757206593 |
413 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1301177075 CA356674743 |
416 | L>M | No |
ClinGen TOPMed |
|
|
rs767588811 CA2882428 |
420 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1560508382 CA356674774 |
421 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 423 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs927432076 CA94411917 |
424 | T>I | No |
ClinGen Ensembl |
|
|
rs927432076 CA94411916 |
424 | T>S | No |
ClinGen Ensembl |
|
|
CA2882430 rs373829735 |
426 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779665848 CA2882431 |
430 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA94411919 rs896039282 |
431 | Y>* | No |
ClinGen Ensembl |
|
|
rs1265791214 CA356674842 |
431 | Y>F | No |
ClinGen gnomAD |
|
|
CA2882432 rs367583517 |
431 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM32224 rs141345574 CA2882434 |
434 | R>* | lung Variant assessed as Somatic; 0.0 impact. large_intestine breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA94411920 COSM1429342 rs901593497 |
434 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs748534358 CA2882435 |
436 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1165605321 CA356674883 |
438 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2882451 COSM1054769 rs760724863 |
442 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765803995 CA2882452 |
442 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356675133 rs1387615386 |
446 | K>R | No |
ClinGen gnomAD |
|
|
rs754576654 CA2882454 |
448 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA356675159 rs1167380567 |
449 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 449 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778566619 CA2882455 |
450 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA356675169 rs1394895225 |
451 | A>V | No |
ClinGen gnomAD |
|
|
rs267600136 CA94412491 |
453 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA356675204 rs1180771796 |
457 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 459 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2882456 rs752386162 |
460 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs778256953 CA2882458 |
466 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195839853 CA356675295 |
470 | G>A | No |
ClinGen gnomAD |
|
|
rs781078831 CA2882461 |
470 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2882462 rs745971756 |
471 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770103647 CA2882463 |
477 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775826919 CA2882464 |
478 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 480 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210765523 CA356675544 COSM3365598 |
481 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs780340499 CA2882483 |
484 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325784362 CA356675585 |
488 | R>* | No |
ClinGen gnomAD |
|
|
CA356675587 rs1168548454 |
488 | R>P | No |
ClinGen gnomAD |
|
|
CA356675586 rs1168548454 |
488 | R>Q | No |
ClinGen gnomAD |
|
|
CA356675635 rs1578021861 |
495 | V>G | No |
ClinGen Ensembl |
|
|
rs200018663 CA356675632 |
495 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2882485 rs200018663 |
495 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA94413033 rs898337408 |
496 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772832592 CA2882486 |
500 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA356675665 rs1385308833 |
501 | A>S | No |
ClinGen gnomAD |
|
|
rs1422548802 CA356675692 |
503 | A>E | No |
ClinGen gnomAD |
|
|
rs17852970 VAR_030603 CA94413124 |
509 | S>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs552189714 CA2882512 |
514 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149066936 CA2882514 |
518 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144999567 CA2882513 |
518 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750824514 CA2882515 |
519 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 521 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356675825 rs1283647272 |
524 | T>A | No |
ClinGen gnomAD |
|
|
rs1401886477 CA356675830 |
525 | V>I | No |
ClinGen TOPMed |
|
|
CA356675840 rs1378413657 |
526 | T>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q8N5T2
1 regional properties for Q8N5T2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 248 - 496 | IPR000195 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
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. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLQEESDLSL | IIAQIVQKLK | GSNLYSQLER | QAWASLQRPE | IKLESLKEDI | KEFFKISGWE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKLQNAVYSE | LSVFPLPSHP | AAPPEHLKEP | LVYMRKAQGS | WEKRILKSLN | SMCTELSIPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ARKRPVGEQK | ELLNKWNEMG | TDEPDLSLFR | PVYAPKDFLE | VLINLRNPNY | ENGDSLSFRT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HLGLIQVPLK | VKDIPELKEC | FVELGLNIGQ | LGIDDSTQVP | PELFENEHVR | IGQKVLAEQD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SAAAQQYIRQ | GSPTALRAEL | WALILNISSQ | PEDVLYYEQL | KTNVIQHDLL | VDSLIYKDVK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LTASNDDYYF | VFEDYLYQVL | LCFSRDTSVL | SHFAFNSASP | PKSYIRGKLG | LEEYAVFYPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NGVIPFHGFS | MYVAPLCFLY | HEPSKLYQIF | REMYVRFFFR | LHSISSHPSG | IVSLCLLFET |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLQTYLPQLF | YHLREIGAQP | LRISFKWMVR | AFSGYLATDQ | LLLLWDRILG | YNSLEILAVL |
| 490 | 500 | 510 | 520 | ||
| AAAVFAFRAV | NLMEVTSLAA | AEAVLADLST | LKVMPLLQIF | LFATVT |