Q6NUQ4
PR
Gene name |
TMEM214 (PP446) |
Protein name |
Transmembrane protein 214 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54867 |
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 Q6NUQ4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6NUQ4-F1 | Predicted | AlphaFoldDB |
530 variants for Q6NUQ4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1056658474 CA44452738 |
4 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1164627438 CA346148353 |
4 | K>R | No |
ClinGen gnomAD |
|
|
CA44452751 rs902158995 |
7 | G>C | No |
ClinGen Ensembl |
|
|
rs999626850 CA44452756 |
9 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1445022515 CA346148420 |
10 | R>L | No |
ClinGen TOPMed |
|
|
CA346148427 rs1572782718 |
11 | W>G | No |
ClinGen Ensembl |
|
|
CA346148466 rs1244812598 |
13 | V>G | No |
ClinGen TOPMed |
|
|
CA44452758 rs945396615 |
16 | K>N | No |
ClinGen TOPMed |
|
|
rs578217345 CA1566773 |
18 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1032593644 CA44452759 |
18 | R>P | No |
ClinGen Ensembl |
|
|
rs867197514 CA44452765 |
19 | R>Q | No |
ClinGen Ensembl |
|
|
rs1342017528 CA346148529 |
19 | R>W | No |
ClinGen TOPMed |
|
|
rs1264213491 CA346148534 |
20 | P>S | No |
ClinGen TOPMed |
|
|
CA44452776 rs1012510088 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1238208727 CA346148567 |
23 | G>R | No |
ClinGen TOPMed |
|
|
rs1329566841 CA346148585 |
24 | A>D | No |
ClinGen TOPMed |
|
|
rs1302465090 CA346148598 |
25 | G>D | No |
ClinGen TOPMed |
|
|
rs1388403253 CA346148592 |
25 | G>S | No |
ClinGen TOPMed |
|
|
rs1282613814 CA346148629 |
28 | G>R | No |
ClinGen gnomAD |
|
|
CA346148649 rs1355772477 |
30 | G>* | No |
ClinGen gnomAD |
|
|
rs1386833311 CA346148655 |
30 | G>E | No |
ClinGen TOPMed |
|
|
rs368291134 CA346148657 |
31 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368291134 CA1566776 |
31 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1183269753 CA346148782 |
41 | A>T | No |
ClinGen TOPMed |
|
|
CA44452794 rs997327025 |
42 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA346148882 rs1266127634 |
48 | D>H | No |
ClinGen TOPMed |
|
|
CA346148912 rs1222368521 |
50 | T>I | No |
ClinGen TOPMed |
|
|
rs1382706173 CA346149021 |
53 | I>T | No |
ClinGen gnomAD |
|
|
CA346149014 rs1303116519 |
53 | I>V | No |
ClinGen gnomAD |
|
|
CA44453183 rs778123097 |
54 | Q>E | No |
ClinGen Ensembl |
|
|
CA346149066 rs1239701000 |
56 | T>I | No |
ClinGen gnomAD |
|
|
rs1418477834 CA346149074 |
57 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346149092 rs1572784372 |
58 | T>I | No |
ClinGen Ensembl |
|
|
rs777038257 CA1566786 |
60 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1572784413 CA346149149 |
62 | R>Q | No |
ClinGen Ensembl |
|
|
rs185429302 CA1566787 |
62 | R>W | Variant assessed as Somatic; 0.001252 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1383830332 CA346149203 |
66 | N>S | No |
ClinGen TOPMed |
|
|
CA1566792 rs766851800 |
67 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs202013263 CA1566793 CA44453211 |
68 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346149250 rs1254028526 |
69 | K>N | No |
ClinGen gnomAD |
|
|
CA1566795 rs201955559 |
70 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1566796 rs201955559 |
70 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199619457 CA1566794 |
70 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1566798 rs749726501 |
71 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1566799 rs753273546 |
72 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346149342 rs1159185407 |
77 | P>T | No |
ClinGen gnomAD |
|
|
CA1566801 rs778978855 |
78 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778978855 CA1566802 |
78 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346149368 rs1394984627 |
79 | P>A | No |
ClinGen gnomAD |
|
|
rs1394984627 CA346149366 |
79 | P>T | No |
ClinGen gnomAD |
|
|
CA346149378 rs1311646548 |
80 | A>T | No |
ClinGen gnomAD |
|
|
CA346149400 rs1329608936 |
81 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779949378 CA1566804 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA346149410 rs1351586681 |
82 | E>G | No |
ClinGen gnomAD |
|
|
rs770076911 CA1566806 |
86 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA346149471 rs1178962619 |
86 | P>S | No |
ClinGen TOPMed |
|
|
rs1319936350 CA346149515 |
88 | N>K | No |
ClinGen gnomAD |
|
|
rs1247669297 CA346149541 |
90 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs368920944 CA44453246 |
91 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346149607 rs1289984035 |
92 | P>L | No |
ClinGen TOPMed |
|
|
rs1014308932 CA44453254 |
93 | K>R | No |
ClinGen TOPMed |
|
|
rs774962672 CA1566810 |
97 | T>A | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 97 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346149691 rs774962672 |
97 | T>P | No |
ClinGen ExAC TOPMed |
|
|
rs372876668 CA1566811 |
98 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335226339 CA346149736 |
99 | P>S | No |
ClinGen TOPMed |
|
|
rs758422826 CA44453274 |
100 | N>T | No |
ClinGen Ensembl |
|
|
CA44453276 rs1044788960 |
103 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 104 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44453279 rs906208365 |
106 | G>D | No |
ClinGen Ensembl |
|
|
rs1307844159 CA346149883 |
106 | G>R | No |
ClinGen TOPMed |
|
|
rs190870924 CA1566813 |
107 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760322604 CA1566814 |
107 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190870924 CA1566812 |
107 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753415521 CA1566816 |
109 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA346149949 rs1421501386 |
109 | R>H | No |
ClinGen gnomAD |
|
|
rs756836305 CA1566817 |
110 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA346149968 rs1418447817 |
110 | S>I | No |
ClinGen gnomAD |
|
|
CA346149971 rs764635395 |
111 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168258961 CA346150007 |
112 | E>D | No |
ClinGen gnomAD |
|
|
rs758231251 CA1566820 |
115 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397840508 CA346150101 |
117 | A>S | No |
ClinGen gnomAD |
|
|
rs1431391631 CA346151308 |
119 | D>G | No |
ClinGen TOPMed |
|
|
rs754112768 CA1566843 |
120 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346151376 rs1572786273 |
122 | D>A | No |
ClinGen Ensembl |
|
|
rs757380319 CA1566845 CA1566844 |
122 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA346151482 rs1399524350 |
127 | L>V | No |
ClinGen TOPMed |
|
|
rs772123539 CA1566847 |
128 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1458128586 CA346151559 |
130 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 130 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346151607 rs1190401016 |
132 | S>C | No |
ClinGen gnomAD |
|
|
rs377411144 CA1566849 |
133 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1566848 rs377411144 |
133 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346151640 rs1251733847 |
134 | F>Y | No |
ClinGen TOPMed |
|
|
CA346151670 rs1174421948 |
136 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346151701 rs1360014931 |
137 | N>I | No |
ClinGen gnomAD |
|
|
rs1360014931 CA346151700 |
137 | N>S | No |
ClinGen gnomAD |
|
|
rs1360014931 CA346151698 |
137 | N>T | No |
ClinGen gnomAD |
|
|
CA1566851 rs776824905 |
140 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA346151735 rs1320910629 |
140 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346151757 rs1484228701 |
141 | W>C | No |
ClinGen TOPMed |
|
|
CA1566852 rs564988128 |
142 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 144 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370101674 CA346151835 |
147 | S>R | No |
ClinGen gnomAD |
|
|
rs1236086079 CA346151844 |
148 | Y>C | No |
ClinGen gnomAD |
|
|
CA1566854 rs187214894 |
149 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762620951 CA1566855 |
150 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA346151863 rs1237292285 |
150 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346151912 rs1209426672 |
154 | Q>* | No |
ClinGen TOPMed |
|
|
rs771720052 CA1566856 |
154 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1244766531 CA346151934 |
156 | P>T | No |
ClinGen gnomAD |
|
|
CA1566857 rs751594319 |
157 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759497442 CA1566858 |
157 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1566859 rs767376676 |
161 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752364794 CA1566860 |
163 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1566861 rs367890814 |
164 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44454974 rs1022648150 |
164 | Q>H | No |
ClinGen Ensembl |
|
|
CA346152053 rs1405296974 |
165 | H>L | No |
ClinGen gnomAD |
|
|
rs969198348 CA44454977 |
165 | H>Y | No |
ClinGen Ensembl |
|
|
CA44454979 rs921051240 |
166 | T>A | No |
ClinGen TOPMed |
|
|
rs779059933 CA1566862 |
167 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA44455093 rs905150971 |
168 | D>G | No |
ClinGen Ensembl |
|
|
CA1566876 rs767295790 |
170 | P>L | No |
ClinGen ExAC |
|
|
CA1566879 rs375315795 |
176 | R>Q | Variant assessed as Somatic; 0.0001392 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760450980 CA1566878 |
176 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896337873 CA44455105 |
177 | E>G | No |
ClinGen Ensembl |
|
|
rs1193488818 CA346152268 |
179 | R>C | No |
ClinGen gnomAD |
|
|
rs766455621 CA1566882 |
179 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1566883 rs751584469 |
183 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368363508 CA1566884 |
183 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1019463 CA44455118 rs760423610 |
187 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA346152375 rs1444088717 |
188 | K>Q | No |
ClinGen TOPMed |
|
|
CA1566888 rs202006590 |
189 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1566889 rs748979056 |
190 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346152431 rs1204185776 |
192 | S>C | No |
ClinGen TOPMed |
|
|
rs1208923028 CA346152441 |
193 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774008514 CA1566892 |
193 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346152451 rs1276322600 |
194 | E>G | No |
ClinGen TOPMed |
|
|
CA1566896 rs775325777 |
200 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA44455135 rs547622537 |
200 | C>S | No |
ClinGen 1000Genomes |
|
|
rs763829435 CA1566898 |
204 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs565929860 CA1566897 |
204 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA44455149 rs376483610 |
207 | E>K | No |
ClinGen Ensembl |
|
|
rs1284306979 CA346152632 |
208 | L>V | No |
ClinGen TOPMed |
|
|
rs763178711 CA1566900 |
209 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA346152684 rs1449331129 |
212 | P>S | No |
ClinGen TOPMed |
|
|
CA1566923 rs367766864 |
214 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367766864 CA1566924 COSM1306655 |
214 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs367766864 CA1566925 |
214 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1566926 rs761098405 |
217 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 218 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764752698 CA1566927 |
219 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA1566928 rs754387894 |
219 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs543417945 CA1566930 COSM1019464 |
220 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs750077464 CA1566931 |
220 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA44455245 rs369531050 |
221 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA1566933 rs779447417 |
223 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346152906 rs1333196447 |
225 | A>T | No |
ClinGen gnomAD |
|
|
CA1566935 rs768151098 |
225 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346152939 rs1331054263 |
227 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 228 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468650392 CA346152968 |
229 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1566936 rs781147496 |
231 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028216469 CA44455253 |
232 | K>E | No |
ClinGen TOPMed |
|
|
CA44455256 rs557413225 |
233 | I>F | No |
ClinGen Ensembl |
|
|
rs763129736 CA1566938 |
233 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1566937 rs748057942 |
233 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759680359 CA1566940 |
235 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346153093 rs1394872429 |
238 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346153104 rs775560802 |
239 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs775560802 CA1566942 |
239 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1566945 rs764233986 |
240 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA1566944 rs764233986 |
240 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA346153250 rs1429338824 |
246 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs199633833 CA1566967 |
247 | S>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA1566969 rs754587147 |
250 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1566970 rs767017949 |
250 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1046367846 CA44455410 |
251 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752143183 CA1566971 |
251 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1566972 rs755607542 |
253 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs960025612 CA44455417 |
255 | C>R | No |
ClinGen Ensembl |
|
|
rs757121092 CA1566975 |
256 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1566977 rs747263797 |
257 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1213471970 CA346153414 |
258 | I>N | No |
ClinGen gnomAD |
|
|
rs768944158 CA1566978 |
258 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373399899 CA1566980 |
259 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1566979 rs575533899 |
259 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867364416 CA44455428 |
261 | A>D | No |
ClinGen Ensembl |
|
|
rs1193297619 CA346153458 |
261 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1193297619 CA346153454 |
261 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199779856 CA1566983 |
263 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766798583 CA1566984 COSM3380128 |
265 | A>G | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1566985 rs774633219 |
266 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs774633219 CA346153523 |
266 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs564964647 CA1566986 |
267 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 267 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036967825 CA44455445 |
269 | N>S | No |
ClinGen gnomAD |
|
|
COSM368730 CA1566988 rs752341303 |
270 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1368317602 CA346153588 |
271 | T>I | No |
ClinGen gnomAD |
|
|
rs377500573 CA1566990 |
272 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319519140 CA346153617 |
274 | L>V | No |
ClinGen TOPMed |
|
|
CA1566993 rs778784572 |
275 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1567010 rs374564131 |
277 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346153707 rs1558396927 |
278 | L>P | No |
ClinGen Ensembl |
|
|
CA346153717 rs1447505566 |
279 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs750358593 CA1567013 |
280 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA346153727 rs750358593 |
280 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368753644 CA1567015 |
281 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA44455527 rs765137985 |
283 | P>S | No |
ClinGen Ensembl |
|
|
rs756225097 CA1567019 |
284 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346153786 rs756225097 |
284 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567020 rs777924109 |
288 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA346153848 rs1381000052 |
289 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1567022 rs771037317 |
291 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1567023 rs779435621 |
292 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1337708792 CA346153887 |
293 | F>L | No |
ClinGen gnomAD |
|
|
rs1216478947 CA346153894 |
293 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 294 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772444168 CA1567025 |
295 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1567029 rs367685464 |
297 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201738953 CA346153952 |
298 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1567031 rs764822348 RCV001007786 |
300 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA44455552 rs570147656 |
302 | L>V | No |
ClinGen 1000Genomes |
|
|
CA1567059 rs765303509 |
304 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1572789868 CA346154578 |
305 | H>Y | No |
ClinGen Ensembl |
|
|
CA1567062 rs572772965 |
307 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758471495 CA1567061 |
307 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201638093 CA44455683 |
308 | L>F | No |
ClinGen gnomAD |
|
|
CA346154599 rs1259465076 |
308 | L>H | No |
ClinGen gnomAD |
|
|
rs755320573 CA1567064 |
310 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200019186 CA1567066 |
311 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377083726 CA1567065 |
311 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1567067 rs368888135 |
312 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1567069 rs182602179 |
313 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346154644 rs1361987214 |
315 | I>T | No |
ClinGen gnomAD |
|
|
CA346154650 rs1558397420 |
316 | G>D | No |
ClinGen Ensembl |
|
|
rs774201621 CA1567071 |
318 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1567070 rs770530938 |
318 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA346154682 rs1393377341 |
321 | F>L | No |
ClinGen gnomAD |
|
|
rs1431438458 CA346154690 |
322 | P>A | No |
ClinGen TOPMed |
|
|
CA1567072 rs759465121 |
322 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1567073 rs34475690 |
324 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762033632 CA1567075 |
328 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1567076 rs373364807 |
329 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1567077 rs750614983 |
330 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370683102 CA1567079 |
331 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333084917 CA346154766 |
333 | S>F | No |
ClinGen gnomAD |
|
|
rs988850810 CA44455711 |
335 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA44455830 rs911336374 |
340 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1430448584 CA346154839 |
343 | C>Y | No |
ClinGen gnomAD |
|
|
CA1567102 rs778230934 |
344 | Q>H | No |
ClinGen ExAC |
|
|
rs753571805 CA1567103 |
346 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1567104 rs753571805 |
346 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1374158809 CA346154870 |
348 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM229683 CA1567105 rs778299413 |
348 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA346154876 rs1361654765 |
349 | L>P | No |
ClinGen gnomAD |
|
|
CA1567106 rs1124649 VAR_039370 |
351 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 355 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44455841 rs897946024 |
356 | A>G | No |
ClinGen Ensembl |
|
|
CA346154916 rs1182754203 |
356 | A>T | No |
ClinGen TOPMed |
|
|
CA1567107 rs374827842 |
358 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1567109 rs746901231 |
359 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1027572921 CA44455850 |
360 | S>F | No |
ClinGen Ensembl |
|
|
rs1193081252 CA346154955 |
362 | L>P | No |
ClinGen TOPMed |
|
|
CA1567110 rs768471999 |
363 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220313148 CA346154968 |
364 | T>S | No |
ClinGen gnomAD |
|
|
CA1567111 rs371985684 |
366 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346154986 rs1281242509 |
367 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs965584249 CA44455864 |
367 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346154987 rs1281242509 |
367 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346154985 rs1281242509 |
367 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1567112 rs749530106 |
370 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs771245856 CA1567113 |
371 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567116 rs369559355 |
372 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1177368299 CA346155019 |
373 | A>T | No |
ClinGen gnomAD |
|
|
CA346155024 rs1345025054 |
373 | A>V | No |
ClinGen gnomAD |
|
|
CA1567117 rs776160099 |
374 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs202159945 CA1567119 |
375 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1572791182 CA346155039 |
376 | S>T | No |
ClinGen Ensembl |
|
|
rs757548369 CA1567121 |
377 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765005912 CA1567122 |
378 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1381055896 CA346155052 |
378 | P>S | No |
ClinGen TOPMed |
|
|
CA346155060 rs1384626399 |
379 | P>L | No |
ClinGen TOPMed |
|
|
COSM1019467 CA44455896 rs1045118216 |
381 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1159512190 CA346155071 |
381 | M>L | No |
ClinGen TOPMed |
|
|
rs750023027 CA1567123 |
381 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs757949466 CA1567124 |
384 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1393485445 CA346155092 |
384 | E>K | No |
ClinGen TOPMed |
|
|
CA346155093 rs1393485445 |
384 | E>Q | No |
ClinGen TOPMed |
|
|
CA346155432 rs1558398815 |
388 | S>C | No |
ClinGen Ensembl |
|
|
CA1567200 rs775203665 |
393 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs200292649 CA1567201 |
394 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346155526 rs1282624801 |
395 | V>A | No |
ClinGen TOPMed |
|
|
rs1417400731 CA346155522 |
395 | V>M | No |
ClinGen gnomAD |
|
|
rs1223375701 CA346155543 |
396 | D>E | No |
ClinGen TOPMed |
|
|
rs1351679570 CA346155558 |
398 | L>F | No |
ClinGen TOPMed |
|
|
rs763635519 CA1567202 |
401 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA44456079 rs776731148 |
401 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567204 rs773408223 |
402 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346155631 rs1438774949 |
403 | W>* | No |
ClinGen TOPMed |
|
|
CA1567205 rs765139358 |
404 | R>K | No |
ClinGen ExAC |
|
|
CA1567207 rs758209146 |
408 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567208 rs767676034 |
409 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346155721 rs1572792435 |
410 | H>P | No |
ClinGen Ensembl |
|
|
rs752945905 CA1567209 |
410 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343153492 CA346155716 |
410 | H>Y | No |
ClinGen TOPMed |
|
|
CA1567212 rs200214622 |
412 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757700807 CA1567213 |
413 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA346155751 rs757700807 |
413 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1277769637 CA346155760 |
413 | Q>H | No |
ClinGen gnomAD |
|
|
CA346155770 rs1409695932 |
414 | S>C | No |
ClinGen TOPMed |
|
|
CA346155833 rs1291229001 |
416 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 417 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346155884 rs1482142533 |
419 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1424645539 CA346155895 |
420 | H>R | No |
ClinGen gnomAD |
|
|
CA1567230 rs201081254 |
423 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1567231 rs148683509 |
424 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs942860964 CA44456168 |
425 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA346155964 rs77126757 |
426 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1567232 rs77126757 RCV000957528 |
426 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758711541 CA1567233 |
427 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA346156007 rs1186249949 |
429 | P>L | No |
ClinGen TOPMed |
|
|
CA346156002 rs1426140455 |
429 | P>S | No |
ClinGen TOPMed |
|
|
CA44456177 rs901414084 |
430 | K>R | No |
ClinGen TOPMed |
|
|
CA1567249 rs761929020 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1012642661 CA44456233 |
433 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1012642661 CA346156133 |
433 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA44456235 rs1024504671 |
435 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1567250 rs765250134 |
438 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346156251 rs1318100576 |
441 | Q>* | No |
ClinGen gnomAD |
|
|
rs1442715096 CA346156276 |
442 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs750924360 CA1567251 |
443 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200210509 CA1567252 |
445 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1292375920 CA346156319 |
445 | L>P | No |
ClinGen gnomAD |
|
|
CA1567254 rs752028131 |
449 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781043630 CA1567256 |
451 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346156468 rs1295662511 |
456 | S>G | No |
ClinGen TOPMed |
|
|
rs1558399471 CA346156472 |
456 | S>N | No |
ClinGen Ensembl |
|
|
CA1567257 rs747756231 |
457 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs747756231 CA346156485 |
457 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769465149 CA1567258 |
459 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346156547 rs1160175114 |
460 | D>G | No |
ClinGen TOPMed |
|
|
CA1567259 rs777355692 |
460 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756912014 CA44456249 |
462 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA44456252 rs952258401 |
463 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1192234031 CA346156649 |
466 | M>V | No |
ClinGen gnomAD |
|
|
rs1411757224 CA346156669 |
467 | A>T | No |
ClinGen gnomAD |
|
|
rs1468860071 CA346156678 |
467 | A>V | No |
ClinGen TOPMed |
|
|
rs1558399546 CA346156706 |
469 | K>R | No |
ClinGen Ensembl |
|
|
rs1270286175 COSM376046 CA346156852 |
473 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA346156854 rs1194511376 |
473 | Q>P | No |
ClinGen TOPMed |
|
|
rs748382843 CA346156869 |
474 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567286 rs773275888 |
474 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1567284 rs748382843 |
474 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770069423 CA1567285 |
474 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA346156908 rs1228952841 |
476 | Q>R | No |
ClinGen gnomAD |
|
|
rs766323014 CA1567288 |
477 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA1567290 rs760057808 |
479 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1567289 rs193089668 |
479 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs894300299 CA44456345 |
481 | P>H | No |
ClinGen gnomAD |
|
|
CA346157008 rs1186484587 |
482 | W>* | No |
ClinGen gnomAD |
|
|
rs1442171203 CA346156997 |
482 | W>R | No |
ClinGen gnomAD |
|
|
CA1567291 rs377304028 |
483 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1567294 rs763844963 |
484 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200807930 CA1567293 |
484 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567299 rs745810063 |
490 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1453597335 CA346157634 |
491 | V>F | No |
ClinGen gnomAD |
|
|
rs1572794103 CA346157636 |
491 | V>G | No |
ClinGen Ensembl |
|
|
rs371237480 CA346157645 |
492 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282651453 CA346157650 |
493 | A>D | No |
ClinGen Ensembl |
|
|
CA346157647 rs373884614 |
493 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373884614 CA44456374 |
493 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs922803375 CA44456378 |
494 | V>I | No |
ClinGen TOPMed |
|
|
rs1344821087 CA346157671 |
497 | L>V | No |
ClinGen gnomAD |
|
|
CA346157687 rs1281082956 |
499 | H>R | No |
ClinGen gnomAD |
|
|
rs377416619 CA346157698 |
500 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1567304 rs773507289 |
501 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA44456386 rs749433367 |
502 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567306 rs201543719 |
502 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749433367 CA1567305 |
502 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774242504 CA1567307 |
503 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs772769483 CA346157722 |
505 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567309 rs772769483 |
505 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776104942 CA1567310 |
508 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs537073976 CA44456396 |
508 | Q>H | No |
ClinGen Ensembl |
|
|
rs762223689 CA1567332 |
510 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA1567334 rs750056899 |
511 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750056899 CA346157772 |
511 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260850198 CA346157774 |
512 | T>A | No |
ClinGen gnomAD |
|
|
CA44456550 rs941790542 |
513 | G>R | No |
ClinGen Ensembl |
|
|
CA1567336 rs765837347 |
513 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs368410962 CA1567338 |
514 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374406887 CA1567337 |
514 | R>W | Variant assessed as Somatic; 0.0001855 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752505698 CA1567340 |
515 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 516 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266801487 CA346157798 |
516 | L>P | No |
ClinGen TOPMed |
|
|
CA1567341 rs755903335 |
517 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346157802 rs1473707933 |
517 | R>L | No |
ClinGen gnomAD |
|
|
CA346157800 rs1473707933 |
517 | R>Q | No |
ClinGen gnomAD |
|
|
CA346157818 rs1182774182 |
520 | G>D | No |
ClinGen gnomAD |
|
|
rs761517357 CA44456571 |
521 | F>C | No |
ClinGen Ensembl |
|
|
CA346157832 rs746034710 |
522 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1567342 rs200225276 |
522 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1241769447 CA346157841 |
524 | A>S | No |
ClinGen TOPMed |
|
|
rs1241769447 CA346157840 |
524 | A>T | No |
ClinGen TOPMed |
|
|
CA346157856 rs1268606957 |
526 | Q>* | No |
ClinGen gnomAD |
|
|
rs747562955 CA1567346 |
527 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1567349 rs559816924 |
529 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346157876 rs1392809452 |
529 | C>R | No |
ClinGen gnomAD |
|
|
CA1567350 rs559816924 |
529 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA44456595 rs982951691 |
530 | A>V | No |
ClinGen TOPMed |
|
|
CA1567351 rs367770591 |
532 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371208030 CA1567353 |
533 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764255612 CA44456605 |
534 | S>F | No |
ClinGen Ensembl |
|
|
rs1204290326 CA346157920 |
536 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1272273267 CA346157924 |
536 | S>I | No |
ClinGen gnomAD |
|
|
rs1272273267 CA346157922 |
536 | S>N | No |
ClinGen gnomAD |
|
|
CA1567356 rs767391608 |
539 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755880599 CA1567358 |
540 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs200723345 CA1567357 |
540 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371716716 CA44456731 |
542 | W>* | No |
ClinGen gnomAD |
|
|
rs1015935671 CA44456734 |
544 | G>V | No |
ClinGen TOPMed |
|
|
CA1567381 rs201187217 |
546 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1567382 rs766747851 |
548 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755044601 CA1567384 |
549 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1457550351 CA346158028 |
551 | G>C | No |
ClinGen TOPMed |
|
|
rs781267918 CA346158029 |
551 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1567385 rs781267918 |
551 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA44456768 rs199510601 |
552 | S>F | No |
ClinGen Ensembl |
|
|
CA346158037 rs1243876854 |
553 | H>Y | No |
ClinGen gnomAD |
|
|
rs1191100538 CA346158047 |
554 | L>P | No |
ClinGen gnomAD |
|
|
rs1486491405 CA346158045 |
554 | L>V | No |
ClinGen gnomAD |
|
|
CA1567387 rs756674964 |
555 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201657793 CA1567389 |
557 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346158111 rs771259022 |
559 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778448786 CA1567391 |
559 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771259022 CA1567390 COSM1668781 |
559 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745490284 CA1567392 |
560 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342376203 CA346158136 |
561 | S>G | No |
ClinGen TOPMed |
|
|
rs775005502 CA1567394 |
561 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1350131983 CA346158153 |
563 | Q>* | No |
ClinGen gnomAD |
|
|
rs776678217 CA1567397 |
563 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761722410 CA1567398 |
565 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1558401229 CA346158174 |
566 | W>* | No |
ClinGen Ensembl |
|
|
rs1264191414 CA346158170 |
566 | W>G | No |
ClinGen gnomAD |
|
|
CA346158177 rs1490967754 |
567 | A>T | No |
ClinGen gnomAD |
|
|
rs1200610607 CA346158182 |
567 | A>V | No |
ClinGen gnomAD |
|
|
CA1567400 rs751736667 |
568 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567401 rs759748580 |
569 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567402 rs374165594 |
570 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1567403 rs374165594 |
570 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1567404 rs559706007 |
571 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44456842 rs367867955 |
574 | S>N | No |
ClinGen gnomAD |
|
|
CA346158233 rs1426425764 |
576 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 577 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346158246 rs1369690985 |
578 | A>T | No |
ClinGen gnomAD |
|
|
CA1567408 rs779267853 |
582 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346158277 rs779267853 |
582 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567409 rs745518257 |
584 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1026071177 CA44456859 |
585 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1026071177 CA44456864 |
585 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1567411 rs779567740 |
590 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1567412 rs746556868 |
590 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1196162544 CA346158343 |
592 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs768259696 CA1567413 |
593 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1417579907 CA346158399 |
597 | R>T | No |
ClinGen gnomAD |
|
|
rs1438414734 CA346158544 |
602 | L>R | No |
ClinGen TOPMed |
|
|
rs775725157 CA1567437 |
603 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346158550 rs1419908382 |
603 | P>T | No |
ClinGen gnomAD |
|
|
CA1567439 rs532409616 |
604 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765813966 CA1567442 |
606 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1567441 rs201036749 |
606 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1433440188 CA346158625 |
607 | N>H | No |
ClinGen gnomAD |
|
|
rs200131734 CA1567443 |
611 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1567444 rs758813086 COSM1229641 |
611 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA346158717 rs766782710 |
612 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567445 rs766782710 |
612 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751268852 CA1567446 |
615 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567447 rs754733457 |
616 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA44457057 rs906582879 |
617 | P>H | No |
ClinGen gnomAD |
|
|
CA346158774 rs906582879 |
617 | P>L | No |
ClinGen gnomAD |
|
|
CA1567449 rs549472451 |
619 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 619 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346158784 rs549472451 |
619 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477574016 CA346158844 |
623 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749136611 CA1567452 |
628 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749136611 CA44457065 |
628 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346158901 rs762962095 |
629 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762962095 CA346158903 |
629 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201363309 CA44457073 |
629 | W>R | No |
ClinGen Ensembl |
|
|
CA1567454 rs778095918 |
630 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA44457079 rs772340622 |
630 | H>Y | No |
ClinGen Ensembl |
|
|
CA1567455 rs201568252 |
631 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346158988 rs1330955314 |
637 | A>T | No |
ClinGen gnomAD |
|
|
rs768934670 CA1567456 |
638 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1341770325 CA346159016 |
639 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 641 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346159078 rs1259671456 |
642 | H>Q | No |
ClinGen gnomAD |
|
|
CA1567458 rs762003161 |
642 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765182993 CA1567459 |
643 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567460 rs773773301 |
644 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1335502597 CA346159173 |
648 | R>* | No |
ClinGen TOPMed |
|
|
rs1471130398 CA346159177 |
648 | R>K | No |
ClinGen TOPMed |
|
|
CA1567490 rs750312901 |
649 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346159320 rs1293547379 |
651 | V>M | No |
ClinGen TOPMed |
|
|
rs374421914 CA44457291 |
652 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA346159353 rs1317073176 |
653 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs887092355 CA44457320 |
655 | C>R | No |
ClinGen Ensembl |
|
|
CA346159494 rs1380754909 |
656 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346159464 rs1359984487 |
656 | M>V | No |
ClinGen gnomAD |
|
|
rs746804824 CA1567493 |
659 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44457323 rs1016130142 |
663 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1046596801 CA44457326 |
663 | A>V | No |
ClinGen TOPMed |
|
|
CA1567494 rs769975433 |
664 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778022300 CA346159723 |
665 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA1567495 rs778022300 |
665 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346159910 rs1242660143 |
668 | W>* | No |
ClinGen gnomAD |
|
|
rs749425607 COSM1240445 CA1567496 |
671 | L>P | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA346160076 rs1449776399 |
674 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 675 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1567497 rs771082684 |
675 | T>I | No |
ClinGen ExAC |
|
|
CA1567498 rs200232142 |
677 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44457345 rs80207730 |
679 | L>F | No |
ClinGen Ensembl |
|
|
CA44457349 rs538526695 |
680 | D>N | No |
ClinGen Ensembl |
|
|
CA346160287 rs1314985577 |
684 | A>T | No |
ClinGen gnomAD |
|
|
rs78254984 CA1567501 |
687 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1567502 rs761099778 |
688 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1567503 rs763696314 |
689 | Q>H | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6NUQ4
No regional properties for Q6NUQ4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6NUQ4 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic microtubule | Any microtubule in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BM55 | Tmem214 | Transmembrane protein 214 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATKTAGVGR | WEVVKKGRRP | GVGAGAGGRG | GGRNRRALGE | ANGVWKYDLT | PAIQTTSTLY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ERGFENIMKR | QNKEQVPPPA | VEPKKPGNKK | QPKKVATPPN | QNQKQGRFRS | LEEALKALDV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ADLQKELDKS | QSVFSGNPSI | WLKDLASYLN | YKLQAPLSEP | TLSQHTHDYP | YSLVSRELRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IIRGLLAKAA | GSLELFFDHC | LFTMLQELDK | TPGESLHGYR | ICIQAILQDK | PKIATANLGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FLELLRSHQS | RPAKCLTIMW | ALGQAGFANL | TEGLKVWLGI | MLPVLGIKSL | SPFAITYLDR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLLMHPNLTK | GFGMIGPKDF | FPLLDFAYMP | NNSLTPSLQE | QLCQLYPRLK | VLAFGAKPDS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TLHTYFPSFL | SRATPSCPPE | MKKELLSSLT | ECLTVDPLSA | SVWRQLYPKH | LSQSSLLLEH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLSSWEQIPK | KVQKSLQETI | QSLKLTNQEL | LRKGSSNNQD | VVTCDMACKG | LLQQVQGPRL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PWTRLLLLLL | VFAVGFLCHD | LRSHSSFQAS | LTGRLLRSSG | FLPASQQACA | KLYSYSLQGY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SWLGETLPLW | GSHLLTVVRP | SLQLAWAHTN | ATVSFLSAHC | ASHLAWFGDS | LTSLSQRLQI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QLPDSVNQLL | RYLRELPLLF | HQNVLLPLWH | LLLEALAWAQ | EHCHEACRGE | VTWDCMKTQL |
| 670 | 680 | ||||
| SEAVHWTWLC | LQDITVAFLD | WALALISQQ |