Q8N4V2
PR
Gene name |
SVOP |
Protein name |
Synaptic vesicle 2-related protein |
Names |
SV2-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55530 |
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 Q8N4V2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N4V2-F1 | Predicted | AlphaFoldDB |
335 variants for Q8N4V2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386445242 rs1238095524 |
4 | D>E | No |
ClinGen gnomAD |
|
|
rs1369946729 CA386445233 |
6 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6771663 rs750436578 |
7 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs958900551 CA243373711 |
10 | Q>* | No |
ClinGen TOPMed |
|
|
rs1327646358 CA683414196 |
13 | V>I | No |
ClinGen TOPMed |
|
|
rs931074438 CA243374312 |
17 | R>C | No |
ClinGen TOPMed |
|
|
CA683414194 rs1281938919 |
17 | R>H | No |
ClinGen TOPMed |
|
|
CA683414193 rs1345433269 |
18 | R>C | No |
ClinGen TOPMed |
|
|
rs1219698317 CA683414192 |
18 | R>H | No |
ClinGen TOPMed |
|
|
rs1290801472 CA683414187 |
28 | D>N | No |
ClinGen TOPMed |
|
|
CA683414186 rs1490864510 |
28 | D>V | No |
ClinGen TOPMed |
|
|
CA683414185 rs1197281561 |
29 | T>M | No |
ClinGen TOPMed |
|
|
rs1480060984 CA683414183 |
30 | A>T | No |
ClinGen TOPMed |
|
|
CA683414182 rs1193690177 |
33 | E>G | No |
ClinGen TOPMed |
|
|
rs1593199250 CA2062196276 |
36 | V>G | No |
ClinGen Ensembl |
|
|
rs1037110695 CA243374299 |
40 | G>R | No |
ClinGen TOPMed |
|
|
CA683414179 rs1166982842 |
43 | V>M | No |
ClinGen TOPMed |
|
|
CA243374296 rs944284221 |
47 | A>T | No |
ClinGen TOPMed |
|
|
rs1426086209 CA683414178 |
48 | V>A | No |
ClinGen TOPMed |
|
|
rs1426086209 CA2062196247 |
48 | V>G | No |
ClinGen TOPMed |
|
|
CA683414177 rs1300734092 |
49 | E>G | No |
ClinGen TOPMed |
|
|
rs1566062581 CA2062196233 |
51 | D>N | No |
ClinGen Ensembl |
|
|
rs1298322853 CA683414172 |
55 | A>T | No |
ClinGen TOPMed |
|
|
rs1325072791 CA683414171 |
56 | V>M | No |
ClinGen TOPMed |
|
|
CA2062196208 rs1593199229 |
60 | F>V | No |
ClinGen Ensembl |
|
|
CA683414170 rs1227078438 |
61 | A>S | No |
ClinGen TOPMed |
|
|
CA386454829 rs1383607434 |
67 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386454636 rs1236711037 |
76 | A>V | No |
ClinGen gnomAD |
|
|
rs1050719692 CA243373188 |
77 | I>T | No |
ClinGen TOPMed |
|
|
CA386454594 rs1566061581 |
79 | F>L | No |
ClinGen Ensembl |
|
|
rs1172708371 CA386454564 |
80 | G>E | No |
ClinGen gnomAD |
|
|
rs1411571610 CA386454472 |
84 | W>R | No |
ClinGen TOPMed |
|
|
CA386454344 rs1207733658 |
90 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386453165 rs1288542213 |
96 | A>V | No |
ClinGen TOPMed |
|
|
rs1189642428 CA386453110 |
98 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348831540 CA386453082 |
99 | M>T | No |
ClinGen TOPMed |
|
|
CA386453063 rs1204709802 |
100 | E>K | No |
ClinGen TOPMed |
|
|
rs994354165 CA243372842 |
101 | M>I | No |
ClinGen TOPMed |
|
|
rs1440776033 CA386453014 |
101 | M>T | No |
ClinGen gnomAD |
|
|
rs1242682404 CA386452972 |
102 | M>I | No |
ClinGen gnomAD |
|
|
rs1318586368 CA386452896 |
105 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1241228305 CA386452838 |
109 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284435894 CA386452745 |
114 | E>K | No |
ClinGen gnomAD |
|
|
rs1449497746 CA386452672 |
116 | R>G | No |
ClinGen gnomAD |
|
|
rs781259273 CA6771648 |
116 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751266873 CA243372834 |
118 | P>A | No |
ClinGen gnomAD |
|
|
CA386452474 rs1593197417 |
122 | V>G | No |
ClinGen Ensembl |
|
|
CA386452427 rs1168718223 |
124 | L>W | No |
ClinGen gnomAD |
|
|
CA243372831 rs970945386 |
125 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1428637699 CA386452365 |
126 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1165218313 CA386452343 |
127 | S>L | No |
ClinGen gnomAD |
|
|
rs1422944456 CA386451299 |
128 | V>L | No |
ClinGen gnomAD |
|
|
rs1422944456 CA386451300 |
128 | V>M | No |
ClinGen gnomAD |
|
|
CA386451270 rs1361765332 |
132 | G>V | No |
ClinGen TOPMed |
|
|
CA386451255 rs1365225507 |
134 | M>T | No |
ClinGen gnomAD |
|
|
rs757216523 CA6771644 |
137 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA386451226 rs1441635215 |
138 | T>M | No |
ClinGen gnomAD |
|
|
rs1175405379 CA386451225 |
139 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA243371534 rs867157021 |
141 | G>E | No |
ClinGen Ensembl |
|
|
rs1412327714 CA386451201 |
142 | N>S | No |
ClinGen TOPMed |
|
|
CA386451194 rs1469613869 |
143 | I>T | No |
ClinGen gnomAD |
|
|
CA243371533 rs866289523 |
148 | G>S | No |
ClinGen Ensembl |
|
|
CA6771643 rs753432938 |
150 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs763740482 CA6771642 |
151 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1486671100 CA386448006 |
154 | K>E | No |
ClinGen gnomAD |
|
|
rs1258403995 CA386447992 |
154 | K>N | No |
ClinGen gnomAD |
|
|
CA386447977 rs1214497179 |
155 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1313253031 CA386447972 |
156 | S>G | No |
ClinGen gnomAD |
|
|
CA386447965 rs1408870637 |
156 | S>T | No |
ClinGen gnomAD |
|
|
rs1221990955 CA386447951 |
157 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402052120 CA386447884 |
161 | L>M | No |
ClinGen gnomAD |
|
|
CA6771628 rs540356378 |
165 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380331840 CA386447675 |
170 | A>T | No |
ClinGen TOPMed |
|
|
rs573317924 CA6771627 |
170 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468222135 CA386447620 |
172 | V>A | No |
ClinGen gnomAD |
|
|
CA386447634 rs1178496058 |
172 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs889511884 CA243369397 |
175 | W>* | No |
ClinGen Ensembl |
|
|
CA386447524 rs1428312673 |
176 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 181 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539214421 CA243369396 |
181 | G>S | No |
ClinGen 1000Genomes |
|
|
CA243369394 rs1042803288 |
183 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA243369395 rs1042803288 |
183 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386447276 rs1202314320 |
188 | G>A | No |
ClinGen gnomAD |
|
|
CA386447278 rs1202314320 |
188 | G>E | No |
ClinGen gnomAD |
|
|
CA386447283 rs1244512149 |
188 | G>R | No |
ClinGen gnomAD |
|
|
CA6771624 rs755714183 |
190 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425417466 CA386447251 |
191 | P>S | No |
ClinGen gnomAD |
|
|
rs556788643 CA243369391 |
193 | S>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs556788643 CA386447217 |
193 | S>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA386445176 rs1383067531 |
194 | V>M | No |
ClinGen TOPMed |
|
|
rs1381923802 CA386445169 |
195 | T>A | No |
ClinGen TOPMed |
|
|
rs963472116 CA243367494 |
195 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA386445146 rs1251162117 |
199 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386445114 rs552922952 |
203 | M>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA243367490 rs552922952 |
203 | M>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1245369825 CA386445085 |
207 | A>G | No |
ClinGen gnomAD |
|
|
CA386445087 rs1312966579 |
207 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA243367489 rs894412520 |
209 | C>G | No |
ClinGen TOPMed |
|
|
rs1055692396 CA243367488 |
211 | L>F | No |
ClinGen TOPMed |
|
|
rs1593184519 CA386460300 |
215 | V>A | No |
ClinGen Ensembl |
|
|
rs1481628168 CA386460306 |
215 | V>I | No |
ClinGen gnomAD |
|
|
rs1198946899 CA386460256 |
218 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs894640043 CA243366999 |
219 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386460234 rs1489120100 |
221 | T>A | No |
ClinGen gnomAD |
|
|
rs1055852652 CA243366995 |
224 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs373960703 CA6771603 |
226 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325419414 CA386460152 |
229 | V>M | No |
ClinGen gnomAD |
|
|
rs369159992 CA6771602 |
231 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326690844 CA386460120 |
232 | M>T | No |
ClinGen gnomAD |
|
|
rs1319664832 CA386460111 |
233 | P>S | No |
ClinGen gnomAD |
|
|
rs377486550 CA386460094 |
234 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384794946 CA386460079 |
236 | G>S | No |
ClinGen gnomAD |
|
|
rs541981069 CA243366993 |
238 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA386460042 rs1387979725 |
239 | W>S | No |
ClinGen gnomAD |
|
|
rs374214027 CA243366992 |
242 | I>F | No |
ClinGen ESP TOPMed |
|
|
CA243366991 rs755119597 |
242 | I>T | No |
ClinGen gnomAD |
|
|
rs1176206952 CA386459974 |
246 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA386459976 rs1176206952 |
246 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386459958 rs1244077398 |
247 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA243366990 rs866879872 |
252 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386459902 rs1462628938 |
253 | V>L | No |
ClinGen gnomAD |
|
|
CA386459905 rs1462628938 |
253 | V>M | No |
ClinGen gnomAD |
|
|
rs753921790 CA243366987 |
255 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753921790 CA243366988 |
255 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6771586 rs746451364 |
258 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356628580 CA386459761 |
259 | P>A | No |
ClinGen gnomAD |
|
|
CA386459727 rs374724869 |
261 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386459702 rs1593183778 |
264 | Y>D | No |
ClinGen Ensembl |
|
|
rs201889778 CA386459626 CA6771578 |
270 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6771579 rs754362880 |
270 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA243366787 rs1048414884 |
274 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 275 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752762976 CA6771576 |
276 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs933604048 CA243366786 |
277 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 277 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 277 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771575 rs767869771 |
279 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386459511 rs1347986877 CA386459509 |
280 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA243366784 rs1006129135 |
283 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs759792468 CA6771574 |
286 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374889554 CA6771573 |
287 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6771572 rs374889554 |
287 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6771571 rs761653706 |
288 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292073373 CA386459427 |
288 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765930887 CA243366782 |
289 | M>I | No |
ClinGen Ensembl |
|
|
CA386459418 rs776439137 |
289 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs776439137 CA6771570 |
289 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs768523814 CA6771569 |
290 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6771566 rs771543319 |
295 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA243366781 rs554503805 |
295 | I>N | No |
ClinGen Ensembl |
|
|
CA243366780 rs1002799820 |
296 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 302 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486557841 CA386458938 |
306 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6771536 rs571006702 |
307 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386458929 rs1322671800 |
307 | D>G | No |
ClinGen TOPMed |
|
|
rs763930042 CA386458925 |
308 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6771535 rs763930042 |
308 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265339372 CA386458908 |
310 | T>I | No |
ClinGen gnomAD |
|
|
rs1222094521 CA386458905 |
311 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373534602 CA6771534 |
312 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296570451 CA386458893 |
313 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386458892 rs1296570451 |
313 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA243366607 rs944503878 |
314 | R>G | No |
ClinGen Ensembl |
|
|
rs1359941581 CA386458870 |
316 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549505762 CA386458851 |
319 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758978625 CA6771531 |
321 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA386458725 rs1401205544 |
324 | W>C | No |
ClinGen gnomAD |
|
|
CA6771530 rs773860750 |
324 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1312320791 CA386458696 |
326 | S>F | No |
ClinGen TOPMed |
|
|
rs1298573513 CA386458691 |
327 | N>D | No |
ClinGen gnomAD |
|
|
rs750706532 CA6771517 |
327 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243366295 rs890833079 |
330 | S>F | No |
ClinGen TOPMed |
|
|
rs1167358482 CA386458641 |
332 | Y>D | No |
ClinGen gnomAD |
|
|
rs752429026 CA6771514 |
333 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 334 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344278009 CA386458623 |
335 | V>I | No |
ClinGen gnomAD |
|
|
CA6771513 rs767375397 |
337 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482548612 CA386458605 |
338 | T>S | No |
ClinGen TOPMed |
|
|
CA386458586 rs759473374 |
341 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6771512 rs759473374 |
341 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA243366293 rs908398240 |
343 | Q>P | No |
ClinGen gnomAD |
|
|
rs774121922 CA6771511 |
345 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765961567 CA6771510 |
345 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771509 rs143454180 |
349 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 351 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771489 rs749894454 |
352 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749894454 CA386458504 |
352 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385747985 CA386458499 |
352 | S>R | No |
ClinGen gnomAD |
|
|
CA6771487 rs761599710 |
353 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6771488 rs764499042 |
353 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769125292 CA6771485 |
354 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6771486 rs776126638 |
354 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760946711 CA6771484 |
356 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386458481 rs760946711 |
356 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555152707 CA6771483 |
358 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1198174227 CA386458468 |
358 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 360 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771482 rs371869713 |
362 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243364968 rs371869713 |
362 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386458430 rs1463521471 |
364 | A>T | No |
ClinGen gnomAD |
|
|
rs1223916957 CA386458416 |
366 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386458403 rs1232772432 |
367 | Y>F | No |
ClinGen TOPMed |
|
|
CA386458399 rs1489077448 |
368 | L>V | No |
ClinGen TOPMed |
|
|
CA386458375 rs1325174142 |
371 | E>G | No |
ClinGen gnomAD |
|
|
CA386458351 rs1232151497 |
374 | M>T | No |
ClinGen gnomAD |
|
|
rs1272712308 CA386458354 |
374 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751243832 CA6771475 |
378 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA243364967 rs1035888615 |
379 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1404452279 CA386458314 |
379 | T>I | No |
ClinGen gnomAD |
|
|
rs375866114 CA243364966 |
381 | L>F | No |
ClinGen Ensembl |
|
|
CA6771471 rs764889789 |
385 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771450 rs753233567 |
388 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs552172018 CA6771449 |
390 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1162358560 CA386458224 |
392 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1411546970 CA386458229 |
392 | W>R | No |
ClinGen gnomAD |
|
|
rs1470386378 CA386458209 |
394 | I>S | No |
ClinGen gnomAD |
|
|
rs767916034 CA6771446 |
395 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6771447 rs752359301 |
395 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759878824 CA6771445 |
396 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375451387 CA6771443 |
396 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6771444 rs375451387 |
396 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386458192 rs763106698 |
398 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6771442 rs763106698 |
398 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1289801633 CA386458186 |
399 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6771441 rs773116090 |
399 | R>H | Variant assessed as Somatic; 0.0001465 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 400 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386458138 rs1286886223 |
406 | C>Y | No |
ClinGen gnomAD |
|
|
rs769888247 CA243364344 |
407 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769888247 CA6771440 |
407 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771439 rs748369027 |
409 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769695390 CA243364343 |
410 | F>C | No |
ClinGen TOPMed |
|
|
CA6771438 rs370714488 |
410 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386458079 rs1401269192 |
415 | L>I | No |
ClinGen gnomAD |
|
|
CA6771436 rs745594958 |
418 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 419 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779009814 CA6771435 |
421 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1216319519 CA386458032 |
422 | G>A | No |
ClinGen TOPMed |
|
|
rs1466347570 CA386458007 |
424 | N>S | No |
ClinGen TOPMed |
|
|
rs1184966993 CA386457998 |
425 | V>G | No |
ClinGen TOPMed |
|
|
rs1406633979 CA386458001 |
425 | V>M | No |
ClinGen gnomAD |
|
|
CA386457988 rs1431133828 |
427 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs866311243 CA243364096 |
431 | F>L | No |
ClinGen Ensembl |
|
|
rs1593175913 CA386457966 |
431 | F>L | No |
ClinGen Ensembl |
|
|
CA386457940 rs1186618401 |
435 | A>T | No |
ClinGen gnomAD |
|
|
rs1593175906 CA386457935 |
435 | A>V | No |
ClinGen Ensembl |
|
|
CA386457922 rs1246727333 |
437 | I>T | No |
ClinGen gnomAD |
|
|
CA243364093 rs970863003 |
443 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA243364090 rs868450077 |
444 | A>T | No |
ClinGen Ensembl |
|
|
CA386457871 rs1208247524 |
445 | Y>C | No |
ClinGen gnomAD |
|
|
rs1160621114 CA386457845 |
449 | P>S | No |
ClinGen TOPMed |
|
|
CA386457637 rs1227520480 |
454 | T>M | No |
ClinGen gnomAD |
|
|
CA6771408 rs758776392 |
456 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386457627 rs1378251848 |
456 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386457624 rs1434356893 |
457 | R>Q | No |
ClinGen gnomAD |
|
|
rs765709664 CA6771406 |
457 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6771404 rs753922905 |
460 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764446418 CA6771403 |
463 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775829005 CA6771401 |
465 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867454100 CA243363631 |
466 | G>D | No |
ClinGen Ensembl |
|
|
CA6771399 rs373382687 |
466 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386457551 rs1375893204 |
469 | R>T | No |
ClinGen TOPMed |
|
|
CA386457544 rs1566046127 |
470 | V>A | No |
ClinGen Ensembl |
|
|
CA243363630 rs967612258 |
470 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 472 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386457534 rs1223336443 |
472 | A>S | No |
ClinGen gnomAD |
|
|
CA6771397 rs769713726 |
473 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771396 rs747677894 |
476 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746723258 CA6771393 |
479 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA243362798 CA386456921 rs867109362 |
482 | M>I | No |
ClinGen TOPMed |
|
|
rs554677065 CA6771384 |
482 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6771383 rs756244494 |
484 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 487 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771381 rs767708273 |
488 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6771380 rs762667689 |
489 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761777965 CA243362776 |
497 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6771376 rs776537942 |
497 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs761777965 CA6771377 |
497 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1198275194 CA386456680 |
501 | A>D | No |
ClinGen gnomAD |
|
|
CA6771375 rs768222577 |
502 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1344442479 CA386456669 |
502 | A>V | No |
ClinGen TOPMed |
|
|
rs746451516 CA6771374 |
506 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA386456570 rs1214751887 |
508 | L>F | No |
ClinGen TOPMed |
|
|
rs775020383 CA6771373 |
509 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6771372 rs771709701 |
514 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs779378388 CA6771370 |
515 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771369 rs757678574 |
515 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1253683114 CA386456339 |
522 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs749864029 CA6771368 |
523 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749864029 CA243362749 |
523 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1231895508 CA386456320 |
523 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6771367 rs778416945 |
524 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386456309 rs1433583984 |
524 | E>V | No |
ClinGen gnomAD |
|
|
rs756264557 CA6771366 |
526 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1566045222 CA386456159 |
531 | G>D | No |
ClinGen Ensembl |
|
|
rs374734041 CA6771363 |
531 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386456157 rs751699856 |
532 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 532 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751699856 CA6771362 |
532 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA386456156 rs1392169611 |
532 | R>Q | No |
ClinGen gnomAD |
|
|
rs1187284284 CA386456149 |
533 | G>A | No |
ClinGen TOPMed |
|
|
rs1170390507 CA386456152 |
533 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6771360 rs761591937 |
534 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6771361 rs765128532 |
534 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386456136 rs1427103199 |
535 | H>R | No |
ClinGen TOPMed |
|
|
CA386456138 rs1593173810 |
535 | H>Y | No |
ClinGen Ensembl |
|
|
CA386456128 rs1253636716 |
536 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6771358 rs763962998 |
536 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386456127 rs1199579835 |
537 | A>T | No |
ClinGen gnomAD |
|
|
CA386456111 rs1342226436 |
539 | V>A | No |
ClinGen gnomAD |
|
|
CA386456093 rs760202056 |
542 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771357 rs760202056 |
542 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6771356 rs775028059 |
543 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6771355 rs771453927 |
544 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1285091198 CA386456068 |
546 | S>F | No |
ClinGen gnomAD |
|
|
CA6771354 rs745588209 |
547 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745588209 CA386456067 |
547 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369468970 CA386456065 |
547 | Q>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA243362693 rs369468970 |
547 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1339150850 CA386456061 |
548 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs566794625 | 549 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771353 rs771485458 |
549 | E>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771485458 CA6771352 |
549 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8N4V2
3 regional properties for Q8N4V2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Bicarbonate transporter-like, transmembrane domain | 7 - 180 | IPR011531-1 |
| domain | Bicarbonate transporter-like, transmembrane domain | 202 - 371 | IPR011531-2 |
| domain | Bicarbonate transporter-like, transmembrane domain | 458 - 548 | IPR011531-3 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| 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. |
| plasma membrane region | A membrane that is a (regional) part of the plasma membrane. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q17QN9 | SLC22A16 | Solute carrier family 22 member 16 | Bos taurus (Bovine) | PR |
| Q1JP63 | SVOP | Synaptic vesicle 2-related protein | Bos taurus (Bovine) | PR |
| Q7L1I2 | SV2B | Synaptic vesicle glycoprotein 2B | Homo sapiens (Human) | PR |
| Q496J9 | SV2C | Synaptic vesicle glycoprotein 2C | Homo sapiens (Human) | PR |
| A6NKX4 | SLC22A31 | Putative solute carrier family 22 member 31 | Homo sapiens (Human) | PR |
| Q9H015 | SLC22A4 | Solute carrier family 22 member 4 | Homo sapiens (Human) | PR |
| Q8N434 | SVOPL | Putative transporter SVOPL | Homo sapiens (Human) | PR |
| Q9Z0E8 | Slc22a5 | Solute carrier family 22 member 5 | Mus musculus (Mouse) | PR |
| Q9Z306 | Slc22a4 | Solute carrier family 22 member 4 | Mus musculus (Mouse) | PR |
| Q9D9E0 | Slc22a17 | Solute carrier family 22 member 17 | Mus musculus (Mouse) | PR |
| Q497L8 | Slc22a16 | Solute carrier family 22 member 16 | Mus musculus (Mouse) | PR |
| Q69ZS6 | Sv2c | Synaptic vesicle glycoprotein 2C | Mus musculus (Mouse) | PR |
| Q6PDF3 | Svopl | Putative transporter SVOPL | Mus musculus (Mouse) | PR |
| Q8BFT9 | Svop | Synaptic vesicle 2-related protein | Mus musculus (Mouse) | PR |
| Q70BM6 | SLC22A8 | Organic anion transporter 3 | Sus scrofa (Pig) | PR |
| Q9Z2I6 | Sv2c | Synaptic vesicle glycoprotein 2C | Rattus norvegicus (Rat) | PR |
| Q9R141 | Slc22a4 | Solute carrier family 22 member 4 | Rattus norvegicus (Rat) | PR |
| Q9Z2I7 | Svop | Synaptic vesicle 2-related protein | Rattus norvegicus (Rat) | PR |
| Q7Z118 | B0361.11 | Putative transporter B0361.11 | Caenorhabditis elegans | PR |
| Q1LVS8 | svopl | Putative transporter SVOPL | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEDLFQLRQ | LPVVKFRRTG | ESARSEDDTA | SGEHEVQIEG | VHVGLEAVEL | DDGAAVPKEF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ANPTDDTFMV | EDAVEAIGFG | KFQWKLSVLT | GLAWMADAME | MMILSILAPQ | LHCEWRLPSW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVALLTSVVF | VGMMSSSTLW | GNISDQYGRK | TGLKISVLWT | LYYGILSAFA | PVYSWILVLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLVGFGIGGV | PQSVTLYAEF | LPMKARAKCI | LLIEVFWAIG | TVFEVVLAVF | VMPSLGWRWL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LILSAVPLLL | FAVLCFWLPE | SARYDVLSGN | QEKAIATLKR | IATENGAPMP | LGKLIISRQE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DRGKMRDLFT | PHFRWTTLLL | WFIWFSNAFS | YYGLVLLTTE | LFQAGDVCGI | SSRKKAVEAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CSLACEYLSE | EDYMDLLWTT | LSEFPGVLVT | LWIIDRLGRK | KTMALCFVIF | SFCSLLLFIC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VGRNVLTLLL | FIARAFISGG | FQAAYVYTPE | VYPTATRALG | LGTCSGMARV | GALITPFIAQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VMLESSVYLT | LAVYSGCCLL | AALASCFLPI | ETKGRGLQES | SHREWGQEMV | GRGMHGAGVT |
| RSNSGSQE |