Q6ZWJ1
PR
Gene name |
STXBP4 |
Protein name |
Syntaxin-binding protein 4 |
Names |
Syntaxin 4-interacting protein, STX4-interacting protein, Synip |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:252983 |
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 Q6ZWJ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YSG | NMR | - | A | 498-530 | PDB |
| AF-Q6ZWJ1-F1 | Predicted | AlphaFoldDB |
421 variants for Q6ZWJ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775803555 CA8660961 |
5 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179194254 CA399916355 |
5 | T>K | No |
ClinGen gnomAD |
|
|
rs764561371 CA291857800 |
6 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558342228 CA8660964 |
6 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8660963 rs764561371 |
6 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8660967 rs750866183 |
12 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8660969 rs370116363 |
13 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370116363 CA8660968 |
13 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304265704 CA399916533 |
13 | L>V | No |
ClinGen gnomAD |
|
|
rs1328311919 CA399916559 |
14 | L>I | No |
ClinGen gnomAD |
|
|
rs752430798 CA8660970 |
14 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA399916581 rs1454793110 |
15 | E>A | No |
ClinGen gnomAD |
|
|
rs1445120718 CA399917247 |
16 | K>N | No |
ClinGen TOPMed |
|
|
rs762172948 CA8660982 |
17 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs889958517 CA291859834 |
17 | D>Y | No |
ClinGen Ensembl |
|
|
rs765530887 CA8660983 COSM1384554 |
22 | M>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA399917313 rs1262105451 |
22 | M>V | No |
ClinGen gnomAD |
|
|
rs763415470 CA8660985 COSM561680 |
25 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372904801 CA8660984 |
25 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8660986 rs767100740 |
26 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs201991309 CA291859868 |
29 | T>I | No |
ClinGen 1000Genomes |
|
|
CA399917453 rs1482743193 |
30 | G>D | No |
ClinGen gnomAD |
|
|
CA8660987 rs752131935 |
30 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs753482014 CA8660990 |
32 | G>A | No |
ClinGen ExAC |
|
|
rs763657265 CA8660989 |
32 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA399917521 rs1193177269 COSM129487 |
34 | K>N | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1430057887 CA399917530 |
35 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1481485647 CA399917586 |
38 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1481485647 CA399917593 |
38 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778811461 CA399917625 |
41 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778811461 CA8660992 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757140831 CA8660991 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8660996 rs780239502 |
44 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs758247468 CA8660994 |
44 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8660995 rs780239502 |
44 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA399917683 rs1380448603 |
45 | P>A | No |
ClinGen gnomAD |
|
|
rs768718177 CA8660997 |
45 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1224772704 CA399917719 |
47 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866516749 CA399917785 |
50 | Q>H | No |
ClinGen gnomAD |
|
|
rs1311189176 CA399917798 |
51 | E>A | No |
ClinGen gnomAD |
|
|
CA8660999 rs748323991 |
52 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA291859950 rs999510321 |
54 | P>A | No |
ClinGen gnomAD |
|
|
rs995928303 CA291859954 |
59 | Y>H | No |
ClinGen TOPMed |
|
|
CA399918878 rs1220990772 |
62 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399918877 rs1220990772 |
62 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8661018 rs748413913 |
62 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399918879 rs1220990772 |
62 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8661019 rs769987070 |
63 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200471337 CA8661020 |
63 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399918886 rs1465986106 |
64 | L>* | No |
ClinGen TOPMed |
|
|
CA8661021 rs139728180 |
66 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8661022 rs771268075 |
67 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8661023 rs774742250 |
70 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774742250 CA399918926 |
70 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145302995 CA8661024 |
71 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145302995 CA291863874 |
71 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426466972 CA399918934 |
72 | S>T | No |
ClinGen gnomAD |
|
|
CA399918971 rs1359489939 |
77 | S>T | No |
ClinGen gnomAD |
|
|
rs35790526 CA291863880 |
77 | S>Y | No |
ClinGen Ensembl |
|
|
CA8661028 rs761617777 |
78 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA291863893 rs1025261064 |
82 | S>L | No |
ClinGen gnomAD |
|
|
CA8661030 rs750031690 |
82 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291863896 rs970983045 |
83 | F>L | No |
ClinGen Ensembl |
|
|
CA8661031 rs762673424 |
83 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200150562 CA291863904 |
85 | E>D | No |
ClinGen Ensembl |
|
|
CA399919051 rs1308636079 |
89 | I>V | No |
ClinGen gnomAD |
|
|
CA399919058 rs1206659633 |
90 | I>V | No |
ClinGen gnomAD |
|
|
CA291863915 rs551669898 |
91 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs551669898 CA291863911 |
91 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs754917737 CA8661034 |
92 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156287 VAR_063103 CA8661033 |
92 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 98 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8661064 rs772944799 |
102 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8661065 rs772944799 |
102 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs868809747 CA291864034 |
103 | I>M | No |
ClinGen Ensembl |
|
|
CA291864031 rs929652811 |
103 | I>V | No |
ClinGen TOPMed |
|
|
rs1051190297 CA291864038 |
104 | A>T | No |
ClinGen TOPMed |
|
|
CA399919350 rs891080997 |
105 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8661066 rs114422198 |
106 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs114422198 CA291864046 |
106 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA291864049 rs752982436 |
107 | R>G | No |
ClinGen Ensembl |
|
|
CA8661067 rs773803250 CA399919472 |
109 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191753050 CA399919492 |
110 | S>C | No |
ClinGen TOPMed |
|
|
CA291864055 rs201842648 |
111 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767494421 CA8661069 |
113 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA399919575 rs767494421 |
113 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA291864061 rs973495899 |
114 | Q>* | No |
ClinGen gnomAD |
|
|
CA8661070 rs775236132 |
114 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs760494443 CA399919619 |
115 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760494443 CA8661071 |
115 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291864069 rs1039544965 |
117 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8661073 rs754102876 |
118 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402844490 CA399919672 |
119 | S>P | No |
ClinGen gnomAD |
|
|
rs34870302 CA8661075 |
120 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_056999 CA8661074 rs34870302 |
120 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8661076 rs750524623 |
121 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779381311 CA291864088 |
121 | T>I | No |
ClinGen Ensembl |
|
|
CA8661081 rs151072341 |
124 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747333606 CA8661080 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777228039 CA8661082 |
128 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8661083 rs748969243 |
129 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1283644237 CA399919846 |
130 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333006089 CA399919933 |
134 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 135 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399919979 rs1223223320 |
136 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1223223320 CA399919978 |
136 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8661087 rs33998936 |
143 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1470969739 CA399920109 |
144 | P>A | No |
ClinGen gnomAD |
|
|
rs1312053370 CA399920114 |
144 | P>L | No |
ClinGen Ensembl |
|
|
CA399920111 rs1470969739 |
144 | P>S | No |
ClinGen gnomAD |
|
|
rs201714381 CA291864126 CA8661089 |
146 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201714381 CA8661088 |
146 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380080803 CA399920197 |
147 | L>R | No |
ClinGen gnomAD |
|
|
rs760404284 CA8661090 |
149 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1329650911 CA399920383 |
154 | T>A | No |
ClinGen gnomAD |
|
|
rs1356442137 CA399920392 |
154 | T>I | No |
ClinGen gnomAD |
|
|
rs1444852085 CA399920441 |
156 | K>R | No |
ClinGen gnomAD |
|
|
CA8661093 rs776355220 |
158 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375956011 CA399920504 |
159 | N>H | No |
ClinGen gnomAD |
|
|
CA399920702 rs1246591216 |
162 | L>S | No |
ClinGen gnomAD |
|
|
CA8661095 rs765423542 |
164 | S>F | No |
ClinGen ExAC TOPMed |
|
|
rs1354197369 CA399920722 |
164 | S>T | No |
ClinGen gnomAD |
|
|
CA399920753 rs1480428015 |
165 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8661096 rs750497332 |
165 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8661097 rs758577713 |
166 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399920930 rs1216386477 |
167 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773587904 CA8661114 |
168 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs763064721 CA8661115 |
169 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA399920963 rs1202483349 |
169 | T>S | No |
ClinGen gnomAD |
|
|
rs768166816 CA291864443 |
170 | G>V | No |
ClinGen Ensembl |
|
|
CA399920998 rs1194595670 |
171 | Y>* | No |
ClinGen gnomAD |
|
|
CA399920995 rs1445403464 |
171 | Y>C | No |
ClinGen TOPMed |
|
|
CA399921013 rs1283637527 |
172 | N>K | No |
ClinGen TOPMed |
|
|
rs766567821 CA8661117 |
174 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358662288 CA399921049 |
174 | T>I | No |
ClinGen TOPMed |
|
|
CA8661118 rs575003070 |
177 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 178 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399921099 rs1391734786 |
179 | I>T | No |
ClinGen gnomAD |
|
|
rs1170098024 CA399921126 |
182 | E>K | No |
ClinGen gnomAD |
|
|
rs374205393 CA8661119 |
183 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471084035 CA399921145 |
183 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399921162 rs1341482762 |
185 | T>A | No |
ClinGen TOPMed |
|
|
rs1316935000 CA399921198 |
188 | L>F | No |
ClinGen TOPMed |
|
|
CA291864461 rs963819667 |
190 | N>D | No |
ClinGen TOPMed |
|
|
CA8661140 rs140691664 |
192 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399921230 rs1396159322 |
192 | D>N | No |
ClinGen TOPMed |
|
|
CA8661141 rs140691664 |
192 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754259399 CA8661142 |
193 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754259399 CA399922003 |
193 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291866642 rs1020377303 |
193 | V>F | No |
ClinGen gnomAD |
|
|
CA291866646 rs754259399 |
193 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003073056 CA399922045 |
196 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1003073056 CA291866649 |
196 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758021668 CA8661143 |
199 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399922146 rs1228970073 |
201 | Y>H | No |
ClinGen gnomAD |
|
|
CA8661144 rs766058578 |
205 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186025973 CA399922246 |
207 | I>S | No |
ClinGen TOPMed |
|
|
rs1421592142 CA399922253 |
208 | S>P | No |
ClinGen TOPMed |
|
|
rs1419910385 CA399922298 |
211 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8661145 rs751036863 |
214 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754466823 CA8661146 |
214 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399922351 rs1283372609 |
215 | F>L | No |
ClinGen TOPMed |
|
|
CA399922889 rs1437737327 |
217 | A>S | No |
ClinGen gnomAD |
|
|
CA399922893 rs1437737327 |
217 | A>T | No |
ClinGen gnomAD |
|
|
CA291866663 rs145919863 |
217 | A>V | No |
ClinGen ESP |
|
|
CA399922997 rs1291306752 |
222 | M>I | No |
ClinGen gnomAD |
|
|
rs200826683 CA8661148 |
222 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8661171 rs746073998 |
223 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399907336 rs746073998 |
223 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399907399 rs1312079946 |
225 | N>H | No |
ClinGen gnomAD |
|
|
CA8661172 rs772396222 |
225 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1220665127 CA399907426 |
226 | Y>C | No |
ClinGen gnomAD |
|
|
CA291854518 rs769960040 |
228 | G>D | No |
ClinGen Ensembl |
|
|
rs1256355828 CA399907504 |
229 | I>T | No |
ClinGen gnomAD |
|
|
CA399907546 rs1400359962 |
230 | Q>E | No |
ClinGen TOPMed |
|
|
rs1598233894 CA399907612 |
231 | P>R | No |
ClinGen Ensembl |
|
|
rs747150594 CA8661175 |
233 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA8661176 rs769110195 |
235 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254840499 CA399907802 |
235 | Q>H | No |
ClinGen gnomAD |
|
|
CA399907773 rs769110195 |
235 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531500056 CA8661178 CA8661179 |
236 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777141661 CA8661177 |
236 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs773689328 CA8661181 |
237 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8661180 rs773689328 |
237 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8661183 rs752111371 |
241 | Q>* | No |
ClinGen ExAC |
|
|
rs1177384058 CA399908024 |
244 | Q>* | No |
ClinGen TOPMed |
|
|
rs951509907 CA291854532 |
244 | Q>L | No |
ClinGen TOPMed |
|
|
CA399908028 rs951509907 |
244 | Q>R | No |
ClinGen TOPMed |
|
|
rs1353324016 CA399908077 |
246 | D>G | No |
ClinGen Ensembl |
|
|
CA291854539 rs1004301519 |
248 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1019840762 CA291854545 |
249 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8661185 rs764066358 |
249 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA291854547 rs1019840762 |
249 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8661206 rs375276610 |
255 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753832965 CA8661187 |
255 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs985756908 CA291855737 |
259 | V>I | No |
ClinGen Ensembl |
|
|
CA399909668 rs1487700032 |
262 | N>K | No |
ClinGen gnomAD |
|
|
CA8661208 rs761818458 |
265 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA8661209 rs765259392 |
267 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399909840 rs1476846760 |
268 | L>M | No |
ClinGen gnomAD |
|
|
CA399910097 rs1381387155 |
276 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 277 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367577647 CA8661210 |
278 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8661211 rs113087507 |
280 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114169071 CA8661212 |
281 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8661213 rs558745859 |
282 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399910304 rs1436112743 |
284 | S>T | No |
ClinGen gnomAD |
|
|
rs201839813 CA8661214 |
285 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA291855767 rs924042115 |
285 | Q>R | No |
ClinGen TOPMed |
|
|
rs1285432083 CA399913316 |
286 | L>F | No |
ClinGen gnomAD |
|
|
CA8661228 rs762585753 |
289 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA399913461 rs1232266619 |
292 | S>L | No |
ClinGen gnomAD |
|
|
CA8661230 rs751410423 |
297 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369283045 CA8661231 CA8661232 |
299 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA291859306 rs1015086708 |
302 | C>Y | No |
ClinGen TOPMed |
|
|
rs199564103 CA8661233 |
304 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399913765 rs1190282259 |
305 | D>G | No |
ClinGen gnomAD |
|
|
CA399913817 rs1235777945 |
307 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs966651982 CA291859317 |
310 | E>D | No |
ClinGen gnomAD |
|
|
rs778076602 CA8661236 |
311 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757764925 CA8661238 |
313 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8661239 rs779400196 |
314 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1338658449 CA399914128 |
315 | K>R | No |
ClinGen gnomAD |
|
|
COSM1293687 CA399915960 rs1352175115 |
316 | E>K | cervix [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1238349639 CA399915971 |
316 | E>V | No |
ClinGen gnomAD |
|
|
rs780921200 CA8661264 |
318 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs769387391 COSM303316 CA8661266 |
320 | E>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8661267 rs567736521 |
320 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8661268 rs748782370 |
322 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA291860864 rs891246941 |
324 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8661270 rs774290064 |
332 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA399916444 rs1459097759 |
334 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399916443 rs1459097759 |
334 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373222193 CA8661271 |
335 | V>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA399922695 rs1230472327 |
338 | E>* | No |
ClinGen gnomAD |
|
|
CA399922690 rs1230472327 |
338 | E>K | No |
ClinGen gnomAD |
|
|
rs1302416052 CA399922720 |
339 | A>D | No |
ClinGen TOPMed |
|
|
CA399922737 rs1477937141 |
340 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399922824 rs1195462713 |
344 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 346 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115063145 CA291869010 |
349 | L>P | No |
ClinGen 1000Genomes |
|
|
CA8661305 rs750585219 |
350 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM291087 CA8661306 rs763528779 |
350 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs550709166 CA8661307 |
351 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371146645 CA8661309 |
352 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751905952 CA8661308 |
352 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777421639 CA8661310 |
353 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA399923003 rs777421639 |
353 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1598286713 CA399923027 |
354 | H>D | No |
ClinGen Ensembl |
|
|
CA399923112 rs1269025737 |
357 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1402042510 CA399923119 |
357 | E>D | No |
ClinGen gnomAD |
|
|
rs1269025737 CA399923106 |
357 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA291869029 rs1045810755 |
358 | A>S | No |
ClinGen TOPMed |
|
|
CA399923143 rs1451762612 |
359 | A>T | No |
ClinGen gnomAD |
|
|
rs1001550762 CA291869044 |
362 | Q>R | No |
ClinGen TOPMed |
|
|
CA8661311 rs374285929 |
363 | A>S | No |
ClinGen ESP ExAC |
|
|
rs1458228643 CA399923224 |
364 | H>R | No |
ClinGen TOPMed |
|
|
CA8661314 rs562525614 |
366 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778372648 CA8661313 |
366 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs778372648 CA291869062 |
366 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs779876955 CA8661316 |
368 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771958231 CA8661315 |
368 | M>V | No |
ClinGen ExAC |
|
|
CA399923394 rs1313556919 |
372 | E>* | No |
ClinGen TOPMed |
|
|
CA8661319 rs776555416 |
375 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM272051 CA8661322 rs770185487 |
375 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770185487 CA8661321 |
375 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776555416 CA8661320 |
375 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8661323 rs763152730 |
376 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs370837603 CA8661324 |
377 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 378 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399923491 rs1395752055 |
379 | A>V | No |
ClinGen TOPMed |
|
|
rs1381505306 CA399923546 |
381 | I>M | No |
ClinGen gnomAD |
|
|
rs983645916 CA291869095 |
382 | T>I | No |
ClinGen TOPMed |
|
|
CA8661326 rs548807647 |
383 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8661327 rs1555576306 |
384 | L>V | No |
ClinGen Ensembl |
|
|
CA8661330 rs1555576312 |
385 | K>T | No |
ClinGen Ensembl |
|
|
CA8661332 rs767763765 |
386 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291869109 rs974439618 |
388 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 390 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8661333 rs753109946 |
390 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8661334 rs756872776 |
393 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8661356 rs750351822 |
397 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8661355 rs765793724 |
397 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399925261 rs1231298064 |
398 | S>N | No |
ClinGen TOPMed |
|
|
CA291870688 rs116791503 |
401 | D>G | No |
ClinGen 1000Genomes |
|
|
rs1183694641 CA399925298 |
401 | D>N | No |
ClinGen gnomAD |
|
|
rs754836904 CA291870691 |
402 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781307107 CA8661358 |
405 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs781307107 CA8661359 |
405 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1163926371 CA399925375 |
406 | I>T | No |
ClinGen gnomAD |
|
|
CA291870698 rs926124574 |
406 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755979690 CA8661360 |
407 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291870701 rs866011823 |
407 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399925386 rs1326721508 |
408 | V>I | No |
ClinGen gnomAD |
|
|
CA8661361 rs777780406 |
410 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399925429 rs1598291584 |
411 | C>R | No |
ClinGen Ensembl |
|
|
rs1567751309 CA399925447 |
412 | Q>R | No |
ClinGen Ensembl |
|
|
CA8661362 rs749461797 |
413 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA8661363 COSM981553 rs771237626 |
414 | R>* | Variant assessed as Somatic; 4.624e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399925471 rs549004159 |
414 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549004159 CA8661364 |
414 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1598291621 CA399925481 |
415 | K>I | No |
ClinGen Ensembl |
|
|
rs992965235 CA291870716 |
416 | S>L | No |
ClinGen Ensembl |
|
|
rs1277307224 CA399925501 |
417 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1241998448 CA399925526 |
418 | M>I | No |
ClinGen gnomAD |
|
|
rs1259087348 CA399925519 |
418 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1341961559 CA399925540 |
419 | A>V | No |
ClinGen gnomAD |
|
|
rs745992466 CA8661365 |
420 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8661366 rs772411748 |
420 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772411748 CA8661367 |
420 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760960459 CA8661368 |
421 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291870728 rs866614845 |
421 | K>I | No |
ClinGen Ensembl |
|
|
rs1255564147 CA399925566 |
422 | T>A | No |
ClinGen gnomAD |
|
|
CA399925569 rs1598291675 |
422 | T>N | No |
ClinGen Ensembl |
|
|
rs1019133493 CA291870731 |
424 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1019133493 CA291870733 |
424 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399925613 rs200465955 |
425 | A>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399925615 rs200465955 |
425 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA291870735 rs200465955 |
425 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA291870737 rs905121599 |
426 | S>A | No |
ClinGen TOPMed |
|
|
CA8661369 rs769002151 |
427 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200922512 CA291870740 |
428 | E>D | No |
ClinGen Ensembl |
|
|
CA8661370 rs142759175 CA399925665 |
429 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762490344 CA8661371 |
430 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3421717 rs759106714 CA8661374 |
432 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs115990000 CA8661373 |
432 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399925726 rs1314165747 |
434 | V>A | No |
ClinGen gnomAD |
|
|
rs1461136152 CA399925719 |
434 | V>I | No |
ClinGen TOPMed |
|
|
rs767498884 CA8661375 |
435 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8661396 rs778331163 |
436 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8661395 rs778331163 |
436 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912002511 CA399925765 |
437 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA291870885 rs912002511 |
437 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1314297159 CA399925779 |
439 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1200064824 CA399925816 |
444 | N>D | No |
ClinGen TOPMed |
|
|
rs1567751674 CA399925847 |
448 | L>F | No |
ClinGen Ensembl |
|
|
CA399925867 rs1351629858 |
451 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 452 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8661412 rs372496307 |
453 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8661414 rs760284819 |
453 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8661413 rs372496307 |
453 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567752809 CA399926016 |
456 | A>G | No |
ClinGen Ensembl |
|
|
rs1598294241 CA399926010 |
456 | A>T | No |
ClinGen Ensembl |
|
|
CA291871518 rs975164561 |
459 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399926075 rs1180480330 |
460 | S>F | No |
ClinGen gnomAD |
|
|
rs1257013392 CA399926129 |
465 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs761721611 CA8661418 |
468 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs549948137 CA8661419 |
469 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA291871526 rs953103086 |
470 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 471 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199941077 CA8661421 |
472 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766615432 CA8661422 |
472 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559307096 CA291871531 |
474 | I>T | No |
ClinGen Ensembl |
|
|
CA399926238 rs1313541370 |
475 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8661424 rs143730464 |
477 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1204984104 CA399926283 |
479 | A>E | No |
ClinGen gnomAD |
|
|
CA8661426 rs748678693 |
479 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA399926286 rs1204984104 |
479 | A>V | No |
ClinGen gnomAD |
|
|
rs1479617682 CA399926315 |
482 | S>P | No |
ClinGen gnomAD |
|
|
rs749706300 CA8661429 |
483 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771802111 CA8661430 |
484 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1598294366 CA399926356 |
485 | L>F | No |
ClinGen Ensembl |
|
|
CA8661431 rs775295632 |
486 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8661432 rs746454597 |
486 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 486 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8661433 rs114844260 |
490 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs35447433 CA8661434 |
490 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8661435 rs116762392 |
493 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs938645241 CA291871546 |
494 | D>G | No |
ClinGen gnomAD |
|
|
CA8661436 rs765126157 |
495 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8661437 rs772951448 |
496 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1567779740 CA399955838 |
499 | P>L | No |
ClinGen Ensembl |
|
|
rs1271876014 CA399955850 |
501 | G>R | No |
ClinGen TOPMed |
|
|
CA399955859 rs1279072836 |
502 | W>L | No |
ClinGen gnomAD |
|
|
CA399955872 rs1364195943 COSM1734777 |
504 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs747639360 CA8661453 |
505 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485718070 CA399955888 |
506 | Y>C | No |
ClinGen gnomAD |
|
|
rs769722780 CA8661454 |
506 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194667460 CA399955907 |
509 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399955926 rs1255364100 |
512 | K>E | No |
ClinGen gnomAD |
|
|
CA399955935 rs1348331111 |
513 | Y>D | No |
ClinGen TOPMed |
|
|
CA399955934 rs1348331111 |
513 | Y>H | No |
ClinGen TOPMed |
|
|
CA292362649 rs1044699182 |
514 | F>V | No |
ClinGen Ensembl |
|
|
rs912297295 CA292362651 |
515 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1471174226 CA399955560 |
516 | N>K | No |
ClinGen gnomAD |
|
|
CA8661465 rs754395762 |
517 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374843138 CA8661466 |
519 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8661467 rs367551956 |
520 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8661468 rs750855187 |
521 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs889379943 CA292366511 |
522 | T>A | No |
ClinGen TOPMed |
|
|
CA399955621 rs1567786749 |
526 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA292366518 rs529715937 |
528 | V>A | No |
ClinGen gnomAD |
|
|
rs769190974 COSM981557 CA8661472 |
528 | V>M | Variant assessed as Somatic; 4.624e-05 impact. liver endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 529 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399955648 rs1433744748 |
530 | S>C | No |
ClinGen TOPMed |
|
|
rs1390800232 CA399955654 |
531 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8661475 rs770897226 |
536 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3403024 rs774093883 CA8661476 |
536 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774093883 CA8661477 |
536 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 539 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399955707 rs1213487678 |
539 | E>D | No |
ClinGen gnomAD |
|
|
rs759562752 CA292366526 |
540 | N>S | No |
ClinGen TOPMed |
|
|
rs759562752 CA292366528 |
540 | N>T | No |
ClinGen TOPMed |
|
|
CA8661479 rs775583126 |
543 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1188108381 CA399955778 |
549 | P>L | No |
ClinGen TOPMed |
|
|
rs1475646622 CA399955773 |
549 | P>T | No |
ClinGen gnomAD |
|
|
CA8661483 rs555191359 |
550 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1269516087 CA399955782 |
550 | N>S | No |
ClinGen TOPMed |
|
|
CA8661484 rs762376207 |
551 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8661485 rs765872260 |
552 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs368219804 CA292366540 |
554 | S>C | No |
ClinGen Ensembl |
|
|
CA399955811 rs1411643398 |
554 | S>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q6ZWJ1
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| syntaxin binding | Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| insulin receptor signaling pathway | The series of molecular signals generated as a consequence of the insulin receptor binding to insulin. |
| positive regulation of cell cycle G1/S phase transition | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
| positive regulation of keratinocyte proliferation | Any process that increases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| protein targeting | The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif. |
| regulation of glucose transmembrane transport | Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of insulin secretion involved in cellular response to glucose stimulus | Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q24008 | inaD | Inactivation-no-after-potential D protein | Drosophila melanogaster (Fruit fly) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNKNTSTVVS | PSLLEKDPAF | QMITIAKETG | LGLKVLGGIN | RNEGPLVYIQ | EIIPGGDCYK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DGRLKPGDQL | VSVNKESMIG | VSFEEAKSII | TGAKLRLESA | WEIAFIRQKS | DNIQPENLSC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TSLIEASGEY | GPQASTLSLF | SSPPEILIPK | TSSTPKTNND | ILSSCEIKTG | YNKTVQIPIT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SENSTVGLSN | TDVASAWTEN | YGLQEKISLN | PSVRFKAEKL | EMALNYLGIQ | PTKEQHQALR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QQVQADSKGT | VSFGDFVQVA | RNLFCLQLDE | VNVGAHEISN | ILDSQLLPCD | SSEADEMERL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KCERDDALKE | VNTLKEKLLE | SDKQRKQLTE | ELQNVKQEAK | AVVEETRALR | SRIHLAEAAQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RQAHGMEMDY | EEVIRLLEAK | ITELKAQLAD | YSDQNKESVQ | DLKKRIMVLD | CQLRKSEMAR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KTFEASTEKL | LHFVEAIQEV | FSDNSTPLSN | LSERRAVLAS | QTSLTPLGRN | GRSIPATLAL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ESKELVKSVR | ALLDMDCLPY | GWEEAYTADG | IKYFINHVTQ | TTSWIHPVMS | VLNLSRSEEN |
| 550 | |||||
| EEDCSRELPN | QKS |