Q8WUA7
Gene name |
TBC1D22A (C22orf4) |
Protein name |
TBC1 domain family member 22A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25771 |
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
2 structures for Q8WUA7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QFZ | X-ray | 210 A | A/B | 191-517 | PDB |
| AF-Q8WUA7-F1 | Predicted | AlphaFoldDB |
425 variants for Q8WUA7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA325202128 rs940047837 |
3 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755020822 CA10297113 |
5 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1472328052 CA411956624 |
6 | A>T | No |
ClinGen gnomAD |
|
|
CA325202139 rs1037270375 |
10 | F>L | No |
ClinGen TOPMed |
|
|
CA325202141 rs972577646 |
13 | R>C | No |
ClinGen TOPMed |
|
|
CA411956708 rs972577646 |
13 | R>G | No |
ClinGen TOPMed |
|
|
CA325202147 rs906815129 |
14 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411956746 rs1157852368 |
16 | S>I | No |
ClinGen gnomAD |
|
|
CA10297115 rs752916321 |
17 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10297116 rs200768437 |
17 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411956792 rs1375724995 |
20 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1375724995 CA411956791 |
20 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1280365660 CA411956784 |
20 | G>S | No |
ClinGen gnomAD |
|
|
rs1601880923 CA411959347 |
23 | Q>K | No |
ClinGen Ensembl |
|
|
CA411959357 rs1394023541 |
24 | H>Y | No |
ClinGen gnomAD |
|
|
rs759936733 CA411959364 |
25 | V>L | No |
ClinGen TOPMed |
|
|
CA325214934 rs759936733 |
25 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10297143 rs569878882 |
26 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 26 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769506883 CA10297144 |
30 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs749629711 CA10297148 |
30 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777340079 CA10297147 |
30 | H>R | No |
ClinGen ExAC |
|
|
CA411959407 rs1208677696 |
32 | P>A | No |
ClinGen gnomAD |
|
|
rs780242440 CA10297149 |
32 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780242440 CA411959409 |
32 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780242440 CA10297150 |
32 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180424417 CA411959415 |
33 | F>C | No |
ClinGen gnomAD |
|
| rs771822190 | 33 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760828519 CA10297155 |
34 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs760828519 CA10297154 |
34 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA411959429 rs1161610885 |
35 | P>L | No |
ClinGen TOPMed |
|
|
rs1161610885 CA411959427 |
35 | P>Q | No |
ClinGen TOPMed |
|
|
CA10297156 rs754052601 |
36 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411959432 rs754052601 |
36 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411959430 rs1419972438 |
36 | L>V | No |
ClinGen gnomAD |
|
|
CA411959439 rs1293964953 |
37 | L>F | No |
ClinGen gnomAD |
|
|
rs146224636 CA10297158 |
38 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146224636 CA325214999 |
38 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411959454 rs1360754684 |
40 | T>A | No |
ClinGen gnomAD |
|
|
rs751292740 CA10297160 |
40 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs985127356 CA325215645 |
43 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10297212 rs373533476 |
44 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10297214 rs755610660 |
45 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370891201 CA325215668 |
46 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA411959592 rs1472299527 |
48 | M>I | No |
ClinGen gnomAD |
|
|
CA10297216 rs748273994 |
49 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411959597 rs748273994 |
49 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182410627 CA411959596 |
49 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10297219 rs373169605 |
50 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139283566 CA10297220 |
50 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760455392 CA10297222 |
52 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA411959616 rs1447640878 |
53 | V>E | No |
ClinGen gnomAD |
|
|
CA10297223 rs188509845 |
53 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411959625 rs1289169185 |
54 | K>N | No |
ClinGen gnomAD |
|
|
rs1352439383 CA411959631 |
55 | A>V | No |
ClinGen gnomAD |
|
|
CA10297224 rs776373828 |
56 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287658736 CA411959637 |
56 | K>R | No |
ClinGen gnomAD |
|
|
rs761408273 CA10297225 |
57 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA10297226 rs764610953 |
60 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749915646 CA10297227 |
65 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs1044797288 CA325215714 |
65 | E>G | No |
ClinGen TOPMed |
|
|
CA411959715 rs1441607266 |
67 | N>S | No |
ClinGen gnomAD |
|
|
CA411959724 rs1324519181 |
68 | T>I | No |
ClinGen TOPMed |
|
|
CA411959733 rs1253443796 COSM3424243 |
70 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1481794938 CA411959754 |
72 | W>C | No |
ClinGen gnomAD |
|
|
rs142628893 CA411959764 |
74 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs142628893 CA325215733 |
74 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10297230 rs151001225 |
76 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10297232 rs758848470 |
78 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297234 rs756616638 |
79 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753108605 COSM3405723 CA10297233 |
79 | D>N | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs375204935 CA325215759 |
84 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA411959829 rs1157899125 |
84 | M>V | No |
ClinGen TOPMed |
|
|
CA411959841 rs1438584179 |
85 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771207642 CA10297237 |
86 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1416917 CA411959842 rs771207642 |
86 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10297238 rs779037012 |
86 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185514145 CA411959848 |
87 | E>* | No |
ClinGen TOPMed |
|
|
rs1339717338 CA411959852 |
87 | E>D | No |
ClinGen gnomAD |
|
|
CA411959856 rs1203967471 |
88 | S>C | No |
ClinGen gnomAD |
|
|
CA411959865 rs1452789652 |
89 | L>P | No |
ClinGen gnomAD |
|
|
CA10297242 rs17849460 |
92 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411959891 rs1213849893 |
93 | V>A | No |
ClinGen TOPMed |
|
|
rs769747383 CA10297243 |
93 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10297244 rs772925609 |
94 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA411959893 rs772925609 |
94 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA411959899 rs1319157328 |
95 | M>V | No |
ClinGen TOPMed |
|
|
CA10297245 rs141580250 |
97 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA411959931 rs1167533607 |
99 | N>S | No |
ClinGen gnomAD |
|
|
rs1167533607 CA411959930 |
99 | N>T | No |
ClinGen gnomAD |
|
|
rs147698824 CA10297248 |
100 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10297249 rs370656255 |
100 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10297251 rs539861629 |
103 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778336837 COSM171051 CA10297252 |
103 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA411959952 rs778336837 |
103 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299605071 CA411959954 |
104 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1428177249 CA411959977 |
107 | Q>* | No |
ClinGen TOPMed |
|
|
CA10297254 rs373618433 |
108 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297253 rs556422849 |
108 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746048534 CA411960002 |
111 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA411960003 rs772304663 |
111 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297257 rs772304663 |
111 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746048534 CA10297256 |
111 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA411960009 rs1383310820 |
112 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 112 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411960012 rs1189739239 |
113 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs146025212 RCV000957767 CA10297258 |
113 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs769624699 CA411960025 |
115 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs769624699 CA10297260 |
115 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10297261 rs113311478 |
118 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411960063 rs1221318821 |
121 | Q>R | No |
ClinGen TOPMed |
|
|
rs971787175 CA325215884 |
122 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA411960068 rs971787175 |
122 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1294609969 CA411960070 |
122 | Q>R | No |
ClinGen TOPMed |
|
|
CA10297262 rs762574245 |
123 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA411960076 rs1393791806 |
123 | K>Q | No |
ClinGen gnomAD |
|
|
CA411960090 rs1386225397 |
125 | R>T | No |
ClinGen gnomAD |
|
|
rs1322410409 CA411960088 |
125 | R>W | No |
ClinGen gnomAD |
|
|
CA10297265 rs759162830 |
127 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA411960108 rs767188708 |
128 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767188708 CA10297266 |
128 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189329763 CA10297268 |
130 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10297267 rs189329763 |
130 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10297271 rs757358750 |
132 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs750492932 CA10297273 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10297272 rs572606763 |
133 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA325215916 rs572606763 |
133 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1318756 rs112995262 CA10297274 |
134 | P>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA411960139 rs201151937 |
134 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411960140 rs201151937 |
134 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10297276 rs201151937 |
134 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411960138 rs112995262 |
134 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112995262 CA10297275 |
134 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10297279 rs749281882 |
135 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA411960143 rs1417281424 |
135 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411960155 rs1386288578 |
136 | G>D | No |
ClinGen gnomAD |
|
|
rs748741270 CA10297280 |
136 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411960152 rs1386288578 |
136 | G>V | No |
ClinGen gnomAD |
|
|
rs543478811 CA10297282 |
137 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1018052328 CA325215978 |
138 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs535972526 CA10297285 |
139 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10297284 rs775148519 |
139 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325215990 rs998925166 |
141 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411960204 rs998925166 |
141 | V>G | No |
ClinGen gnomAD |
|
|
CA411960217 rs1484416151 |
142 | K>R | No |
ClinGen gnomAD |
|
|
CA10297287 rs563554988 |
143 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1308707476 CA411960240 |
145 | S>G | No |
ClinGen TOPMed |
|
|
CA411960244 rs1483432891 |
145 | S>T | No |
ClinGen gnomAD |
|
|
CA10297289 rs765718678 |
147 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297290 rs375588486 |
149 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1343453173 CA411960296 |
150 | S>F | No |
ClinGen TOPMed |
|
|
CA325215997 rs867600460 |
151 | C>F | No |
ClinGen gnomAD |
|
|
CA411960307 rs867600460 |
151 | C>Y | No |
ClinGen gnomAD |
|
|
rs1464321405 CA411960326 |
153 | A>T | No |
ClinGen gnomAD |
|
|
CA10297309 rs762974977 |
155 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA411960946 rs1271097186 |
156 | A>D | No |
ClinGen gnomAD |
|
|
rs1306997716 CA411960950 |
157 | S>G | No |
ClinGen gnomAD |
|
|
CA411960957 rs1267287718 |
158 | D>N | No |
ClinGen gnomAD |
|
|
CA411960970 rs1467115886 |
159 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411960972 rs759900287 |
160 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297312 rs759900287 |
160 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411960981 rs1569048123 |
161 | P>L | No |
ClinGen Ensembl |
|
|
CA10297313 rs547810602 |
162 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10297315 rs561746997 |
168 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424020889 CA411961028 |
169 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10297317 rs187687977 |
171 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1325759617 CA411961047 |
172 | A>S | No |
ClinGen gnomAD |
|
|
rs1437638532 CA411961056 |
173 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1389879381 CA411961053 |
173 | T>S | No |
ClinGen gnomAD |
|
|
CA10297320 rs746506768 |
174 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141698918 CA411961064 |
175 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000965512 CA10297322 rs141698918 |
175 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs367864102 CA10297321 |
175 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773418910 CA10297325 |
176 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10297326 rs763567912 |
177 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA411961078 rs1170571861 |
178 | G>D | No |
ClinGen TOPMed |
|
|
rs1170571861 CA411961080 |
178 | G>V | No |
ClinGen TOPMed |
|
|
CA10297327 rs146205023 |
179 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10297328 rs146205023 |
179 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139101675 CA10297329 |
180 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA325217927 rs748132646 |
181 | D>H | No |
ClinGen Ensembl |
|
|
CA411961101 rs1175211637 |
182 | P>R | No |
ClinGen TOPMed |
|
|
rs1249565988 CA411961099 |
182 | P>S | No |
ClinGen TOPMed |
|
|
rs1415048979 CA411961108 |
183 | S>N | No |
ClinGen gnomAD |
|
|
rs1052520953 CA325217937 |
186 | S>G | No |
ClinGen TOPMed |
|
|
rs752916130 CA10297331 |
187 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10297332 rs761726540 |
189 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1233342682 CA411961148 |
190 | L>M | No |
ClinGen TOPMed |
|
|
rs149499645 CA10297335 |
191 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1035211 rs1000073319 CA325217969 |
192 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1350818408 CA411961182 |
195 | A>T | No |
ClinGen gnomAD |
|
|
CA411961187 rs1304770672 |
195 | A>V | No |
ClinGen gnomAD |
|
|
rs372774075 CA10297338 |
197 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411961194 rs1282803682 |
197 | R>W | No |
ClinGen TOPMed |
|
|
rs778261467 CA10297342 |
199 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10297341 rs747838862 |
199 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA411961204 rs747838862 |
199 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747838862 CA10297340 |
199 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1305325537 CA411961224 |
201 | F>L | No |
ClinGen TOPMed |
|
|
rs569400492 CA10297343 |
202 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771476540 CA10297344 |
206 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA325218023 rs958242168 |
206 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10297346 rs538362760 |
207 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411961264 rs1352515275 |
208 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411961266 rs1601905353 |
209 | N>H | No |
ClinGen Ensembl |
|
|
CA411961271 rs1415335800 |
209 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1175775807 CA411961279 |
210 | T>R | No |
ClinGen gnomAD |
|
|
CA10297362 rs749679165 |
216 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777226130 CA10297361 |
216 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1408209617 CA411962506 |
219 | S>R | No |
ClinGen gnomAD |
|
|
CA325231757 rs916918749 |
219 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 221 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331664937 CA411962528 |
222 | G>R | No |
ClinGen gnomAD |
|
|
rs1301031154 CA411962546 |
224 | P>L | No |
ClinGen gnomAD |
|
|
CA10297367 rs775769635 |
227 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs768924971 CA10297369 |
228 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768924971 CA10297370 |
228 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194794161 CA411962567 |
228 | R>H | No |
ClinGen gnomAD |
|
|
rs1395387798 CA411962578 |
230 | M>K | No |
ClinGen TOPMed |
|
|
CA10297371 rs144042293 |
230 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10297372 rs563360644 |
231 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA325231805 rs924343238 |
232 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 233 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529507386 CA325231809 |
234 | L>V | No |
ClinGen 1000Genomes |
|
|
rs766583001 CA411962611 |
235 | L>F | No |
ClinGen TOPMed |
|
|
CA325231813 rs766583001 |
235 | L>V | No |
ClinGen TOPMed |
|
|
rs748255958 CA10297406 |
237 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs770011457 CA10297408 |
238 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs201635788 CA10297411 |
241 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10297412 rs775320809 |
242 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411962683 rs1339531459 |
244 | D>E | No |
ClinGen TOPMed |
|
|
rs1227209780 CA411962679 |
244 | D>Y | No |
ClinGen TOPMed |
|
|
rs776069319 CA10297415 |
245 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10297414 COSM1495259 rs142211618 |
245 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10297416 rs761339734 |
246 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1334367123 CA411962727 |
252 | R>* | No |
ClinGen gnomAD |
|
|
rs764993895 CA10297417 |
254 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297418 rs750046043 |
254 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM258146 CA411962754 rs1350377357 |
255 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 255 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA325225345 rs373848436 |
256 | E>A | No |
ClinGen ESP TOPMed |
|
|
CA411962761 rs1208976578 |
256 | E>D | No |
ClinGen gnomAD |
|
|
CA411962767 rs1406559078 |
257 | Y>F | No |
ClinGen TOPMed |
|
|
rs199700764 CA10297420 |
260 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411962804 rs766900008 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751940883 CA10297423 |
264 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10297422 rs751940883 |
264 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA10297426 rs756141681 COSM1035213 |
266 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10297419 rs778817994 |
267 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411962856 rs1484383950 |
270 | D>N | No |
ClinGen gnomAD |
|
|
rs779768621 CA10297430 COSM1416920 |
271 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA325225407 rs773727543 |
272 | V>L | No |
ClinGen Ensembl |
|
|
rs746812615 CA10297431 |
276 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304694099 CA639667619 |
277 | Y>* | No |
ClinGen gnomAD |
|
|
CA411962913 rs1238578949 |
278 | R>G | No |
ClinGen gnomAD |
|
|
rs775351336 CA411963059 |
281 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297461 rs775351336 |
281 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1021808630 CA325227547 |
282 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763218275 CA325227566 |
285 | P>L | No |
ClinGen Ensembl |
|
|
rs761224095 CA10297463 COSM1535737 |
286 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs560814069 CA325227596 |
287 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA10297465 rs753916958 |
287 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297466 rs139839482 |
288 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1602353254 CA411963164 |
289 | P>S | No |
ClinGen Ensembl |
|
|
rs1325701498 CA411963179 |
290 | E>G | No |
ClinGen gnomAD |
|
|
rs375436361 CA10297467 |
291 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA325227637 rs909453412 |
292 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10297469 rs758517657 |
293 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 295 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 297 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332635875 CA411963262 |
297 | K>Q | No |
ClinGen gnomAD |
|
|
rs147682361 CA411963295 |
299 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10297471 rs147682361 |
299 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10297473 rs777796856 |
300 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411963829 rs1380051001 |
305 | I>T | No |
ClinGen gnomAD |
|
|
CA325235741 rs371872564 |
305 | I>V | No |
ClinGen Ensembl |
|
|
rs1401216784 CA411963838 |
306 | L>F | No |
ClinGen TOPMed |
|
|
CA10297494 rs778539219 |
310 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA411963897 rs1602447008 |
311 | I>T | No |
ClinGen Ensembl |
|
|
rs988342620 CA325235750 |
312 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs771756934 COSM189366 CA10297496 |
312 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747395220 CA10297498 |
313 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA10297499 rs768967302 |
314 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762431913 CA10297501 |
319 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10297502 rs770198561 |
320 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA411963983 rs1346541684 |
323 | N>D | No |
ClinGen gnomAD |
|
|
rs548444280 CA10297505 |
326 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751794345 CA10297506 |
327 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759803136 CA411964027 CA10297507 |
329 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369108625 CA10297509 COSM445140 |
334 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs9616149 CA325235773 |
335 | C>G | No |
ClinGen Ensembl |
|
|
rs1393561622 CA411964080 |
337 | Y>C | No |
ClinGen gnomAD |
|
|
rs953262044 CA325235777 |
337 | Y>H | No |
ClinGen TOPMed |
|
|
rs371300371 CA325235780 |
338 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs5769241 CA325235781 |
339 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 339 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181280559 CA411962940 |
339 | E>V | No |
ClinGen TOPMed |
|
|
rs752146755 CA10297619 |
341 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs149810185 CA10297620 |
342 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276229877 CA411962977 |
344 | D>E | No |
ClinGen TOPMed |
|
|
CA10297621 rs767639714 |
345 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA325241160 rs1026496872 |
345 | T>P | No |
ClinGen Ensembl |
|
|
CA411963001 rs1398286672 |
348 | V>A | No |
ClinGen gnomAD |
|
|
CA411962997 rs1403596097 |
348 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411963007 rs1340206491 |
349 | S>C | No |
ClinGen gnomAD |
|
|
CA411963004 rs1332640033 |
349 | S>P | No |
ClinGen gnomAD |
|
|
rs199657694 CA10297625 |
350 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10297627 rs367573498 |
351 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768703084 CA10297629 |
352 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411963020 rs768703084 |
352 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297632 rs148990656 |
353 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10297631 rs148990656 |
353 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378059107 CA411963041 |
354 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 354 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411963039 rs1180259997 |
354 | E>V | No |
ClinGen gnomAD |
|
|
CA10297634 rs762481807 |
355 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA411963072 rs1173777416 |
357 | C>G | No |
ClinGen gnomAD |
|
|
rs1378817673 CA411963081 |
357 | C>W | No |
ClinGen gnomAD |
|
|
CA411963074 rs1471596412 |
357 | C>Y | No |
ClinGen TOPMed |
|
|
CA411963108 rs1468061528 |
359 | I>M | No |
ClinGen gnomAD |
|
|
rs760099782 CA10297637 |
360 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10297640 rs760693157 |
362 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA325241232 rs775181541 |
363 | T>S | No |
ClinGen Ensembl |
|
|
CA411963182 rs1333784593 |
365 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1333784593 CA411963184 |
365 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764259105 CA411963201 |
366 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA10297641 rs764259105 |
366 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1446257680 CA411963230 |
368 | S>N | No |
ClinGen gnomAD |
|
|
rs1253653736 CA411963276 |
372 | D>N | No |
ClinGen TOPMed |
|
|
CA10297674 rs546110825 |
377 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411963725 rs1007529328 |
387 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1007529328 CA325250258 |
387 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10297675 rs775814845 |
390 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297677 rs747575625 |
393 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776778660 CA10297679 |
396 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10297680 rs761744005 |
397 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10297682 rs773528818 |
398 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485808665 CA411963872 COSM445141 |
398 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10297683 rs763243690 |
399 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA411963888 rs1164265829 |
399 | I>T | No |
ClinGen gnomAD |
|
|
CA411963882 rs763243690 |
399 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10297685 rs752533977 |
401 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411963359 rs755258982 |
402 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411963371 rs1603106605 |
404 | H>R | No |
ClinGen Ensembl |
|
|
CA10297715 rs373561956 |
405 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370812561 CA10297714 |
405 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411963385 rs778003136 |
407 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA10297718 rs749322563 |
408 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297719 rs771297442 |
409 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10297721 COSM1035215 rs759769107 |
411 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA411963426 rs1413659053 |
413 | R>G | No |
ClinGen gnomAD |
|
|
rs1403973437 CA639677992 |
414 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA10297724 rs776477061 |
414 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297725 rs145253414 |
418 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765094951 CA10297726 |
419 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1438074649 CA411963474 |
420 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA325241773 rs912846000 |
420 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1197126354 CA411963518 |
426 | L>Q | No |
ClinGen gnomAD |
|
|
rs1603106960 CA411963522 |
427 | M>V | No |
ClinGen Ensembl |
|
|
rs765009698 CA325241784 |
429 | E>D | No |
ClinGen Ensembl |
|
|
CA411963559 rs1188023419 |
432 | L>P | No |
ClinGen TOPMed |
|
|
rs141677462 CA10297728 |
433 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10297729 rs766052184 |
433 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10297730 rs751211147 |
436 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA10297732 COSM580344 rs781476335 |
437 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10297733 COSM1416921 rs753037531 |
437 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756700338 CA10297734 |
439 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs778372230 CA10297735 |
440 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1391057689 CA411963614 |
441 | T>I | No |
ClinGen gnomAD |
|
|
rs1208541843 CA411963609 |
441 | T>P | No |
ClinGen TOPMed |
|
|
CA411963615 rs1406722017 |
442 | Y>H | No |
ClinGen gnomAD |
|
|
CA10297761 rs768020083 |
446 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411983679 rs1377904081 |
447 | D>Y | No |
ClinGen gnomAD |
|
|
CA325424192 rs138576280 |
448 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA411983692 rs1223364922 |
449 | F>L | No |
ClinGen TOPMed |
|
|
CA10297764 rs749289473 |
450 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA411983707 rs1371362924 |
451 | H>R | No |
ClinGen TOPMed |
|
|
rs1335105181 CA411983704 |
451 | H>Y | No |
ClinGen gnomAD |
|
|
rs374905207 CA10297765 |
452 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333990859 CA411983734 |
455 | Y>H | No |
ClinGen gnomAD |
|
|
rs367838104 CA10297769 |
456 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411983752 rs1445715849 |
457 | C>Y | No |
ClinGen gnomAD |
|
|
CA10297771 rs764607944 |
458 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA411983760 rs1262223610 |
459 | A>T | No |
ClinGen gnomAD |
|
|
rs1457958074 CA411983767 |
460 | F>L | No |
ClinGen gnomAD |
|
|
rs1235843202 CA411983781 |
462 | V>L | No |
ClinGen gnomAD |
|
|
rs757846274 CA10297773 |
463 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA411983793 rs1450202904 |
464 | W>R | No |
ClinGen TOPMed |
|
|
CA411983803 rs1198950585 |
465 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA411983822 COSM1308267 rs1259323519 |
467 | E>D | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA325424239 rs989781767 |
469 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 470 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411983846 rs1405764252 |
471 | E>G | No |
ClinGen gnomAD |
|
|
CA411983843 rs542380822 |
471 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542380822 CA10297774 |
471 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411983855 rs1333549507 |
472 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 475 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306585811 CA411983366 |
476 | E>Q | No |
ClinGen gnomAD |
|
|
CA10297796 rs766540708 |
477 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755205214 CA10297798 |
478 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10297799 rs781343015 |
481 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10297801 rs373398596 |
488 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411983488 rs1428146450 |
494 | I>V | No |
ClinGen gnomAD |
|
|
CA10297802 rs778546759 |
495 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs746462660 CA10297806 |
500 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM189457 CA10297808 rs776386503 |
503 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1601770662 CA411983547 |
503 | R>S | No |
ClinGen Ensembl |
|
|
rs763586138 CA10297812 |
510 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10297811 rs773437557 |
510 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411983598 rs1569483166 COSM3424245 |
511 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10297815 rs759572384 |
512 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297817 rs752962513 |
513 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10297818 rs376369955 |
514 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778833309 CA10297819 |
515 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs6008057 CA325467709 |
516 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs542359357 CA10297821 |
518 | K>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380954201 CA411983646 |
518 | K>R | No |
ClinGen gnomAD |
No associated diseases with Q8WUA7
1 regional properties for Q8WUA7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 219 - 472 | IPR000195 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 14-3-3 protein binding | Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections: a divergent amino terminus, the conserved core region and a divergent carboxy-terminus. The conserved middle core region of the 14-3-3s encodes an amphipathic groove that forms the main functional domain, a cradle for interacting with client proteins. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
27 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| Q8R5A6 | Tbc1d22a | TBC1 domain family member 22A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASDGARKQF | WKRSNSKLPG | SIQHVYGAQH | PPFDPLLHGT | LLRSTAKMPT | TPVKAKRVST |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FQEFESNTSD | AWDAGEDDDE | LLAMAAESLN | SEVVMETANR | VLRNHSQRQG | RPTLQEGPGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QQKPRPEAEP | PSPPSGDLRL | VKSVSESHTS | CPAESASDAA | PLQRSQSLPH | SATVTLGGTS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DPSTLSSSAL | SEREASRLDK | FKQLLAGPNT | DLEELRRLSW | SGIPKPVRPM | TWKLLSGYLP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ANVDRRPATL | QRKQKEYFAF | IEHYYDSRND | EVHQDTYRQI | HIDIPRMSPE | ALILQPKVTE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFERILFIWA | IRHPASGYVQ | GINDLVTPFF | VVFICEYIEA | EEVDTVDVSG | VPAEVLCNIE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ADTYWCMSKL | LDGIQDNYTF | AQPGIQMKVK | MLEELVSRID | EQVHRHLDQH | EVRYLQFAFR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WMNNLLMREV | PLRCTIRLWD | TYQSEPDGFS | HFHLYVCAAF | LVRWRKEILE | EKDFQELLLF |
| 490 | 500 | 510 | |||
| LQNLPTAHWD | DEDISLLLAE | AYRLKFAFAD | APNHYKK |