P46459
SS
Gene name |
NSF |
Protein name |
Vesicle-fusing ATPase |
Names |
N-ethylmaleimide-sensitive fusion protein, NEM-sensitive fusion protein, Vesicular-fusion protein NSF |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4905 |
EC number |
3.6.4.6: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
NSF is a member of the type II AAA+ (ATPase associated with various cellular activities) family. It plays a critical role in intracellular membrane trafficking by disassembling soluble NSF attachment protein receptor (SNARE) complexes. NSF is a ring-shaped homohexameric protein, with each protomer consisting of three domains: an N-terminal domain (N domain) and two highly conserved AAA+ domains (D1 and D2 domains). Mutations within the N-D1 linker region cause significant defects in the disassembly of the SNARE complex and the SNARE/α-SNAP complex binding activity. The middle and C-terminal region mutants of the NSF N-D1 linker have also increased basal ATPase activity.
Autoinhibitory domains (AIDs)
Target domain |
252-399 (D1 domain or ATPase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for P46459
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6KZQ | X-ray | 170 A | F | 79-87 | PDB |
| AF-P46459-F1 | Predicted | AlphaFoldDB |
572 variants for P46459
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1598649024 | 36 | I>T | No | Ensembl | |
|
CA400307502 rs1598649024 |
36 | I>T | No |
ClinGen Ensembl |
|
| rs1598649030 | 42 | N>K | No | Ensembl | |
|
rs1598649030 CA400307577 |
42 | N>K | No |
ClinGen Ensembl |
|
|
rs1459717910 CA400307712 |
52 | H>R | No |
ClinGen gnomAD |
|
| rs1459717910 | 52 | H>R | No | gnomAD | |
| rs1294347854 | 53 | P>S | No | gnomAD | |
|
CA400307722 rs1294347854 |
53 | P>S | No |
ClinGen gnomAD |
|
|
rs1385182764 CA400307740 |
54 | S>L | No |
ClinGen gnomAD |
|
| rs1385182764 | 54 | S>L | No | gnomAD | |
| rs1195986468 | 74 | I>V | No | TOPMed | |
|
rs1195986468 CA400314133 |
74 | I>V | No |
ClinGen TOPMed |
|
|
rs1598650478 CA400314143 |
75 | G>A | No |
ClinGen Ensembl |
|
| rs1598650478 | 75 | G>A | No | Ensembl | |
|
rs1488891402 CA400314177 |
80 | V>I | No |
ClinGen TOPMed |
|
| rs1488891402 | 80 | V>I | No | TOPMed | |
|
rs1159534427 CA400314332 |
100 | D>N | No |
ClinGen TOPMed |
|
| rs1159534427 | 100 | D>N | No | TOPMed | |
| rs1405268137 | 115 | D>N | No | TOPMed | |
|
CA400314443 rs1405268137 |
115 | D>N | No |
ClinGen TOPMed |
|
| rs1238328075 | 126 | N>K | No |
TOPMed gnomAD |
|
|
CA400314531 rs1238328075 |
126 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1178582311 CA400314650 |
141 | N>S | No |
ClinGen TOPMed gnomAD |
|
| rs1178582311 | 141 | N>S | No |
TOPMed gnomAD |
|
|
CA400314719 rs1317983671 |
151 | D>G | No |
ClinGen TOPMed |
|
| rs1317983671 | 151 | D>G | No | TOPMed | |
|
CA400314724 rs1380751096 |
152 | I>V | No |
ClinGen TOPMed |
|
| rs1380751096 | 152 | I>V | No | TOPMed | |
| rs1163304609 | 158 | S>G | No |
TOPMed gnomAD |
|
|
CA400314768 rs1163304609 |
158 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1425960798 CA400314810 |
164 | P>A | No |
ClinGen TOPMed gnomAD |
|
| rs1425960798 | 164 | P>A | No |
TOPMed gnomAD |
|
| rs1425960798 | 164 | P>S | No |
TOPMed gnomAD |
|
|
CA400314811 rs1425960798 |
164 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400314820 rs1383354548 |
165 | A>V | No |
ClinGen TOPMed |
|
| rs1383354548 | 165 | A>V | No | TOPMed | |
| rs1598656285 | 166 | T>K | No | Ensembl | |
|
rs1598656285 CA400314824 |
166 | T>K | No |
ClinGen Ensembl |
|
|
CA400314830 rs1297780616 |
167 | G>E | No |
ClinGen TOPMed gnomAD |
|
| rs1297780616 | 167 | G>E | No |
TOPMed gnomAD |
|
| rs767206346 | 317 | G>A | No |
ExAC gnomAD |
|
|
rs767206346 CA8620178 |
317 | G>A | No |
ClinGen ExAC gnomAD |
|
| rs767206346 | 317 | G>A | No |
ExAC gnomAD |
|
|
CA399984748 rs1255289920 |
320 | S>G | No |
ClinGen TOPMed |
|
| rs1255289920 | 320 | S>G | No | TOPMed | |
| rs1255289920 | 320 | S>G | No | TOPMed | |
| rs755716253 | 322 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs755716253 | 322 | L>V | No |
ExAC TOPMed gnomAD |
|
|
rs755716253 CA8620180 |
322 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8620181 rs765646897 |
330 | I>M | No |
ClinGen ExAC gnomAD |
|
| rs765646897 | 330 | I>M | No |
ExAC gnomAD |
|
| rs765646897 | 330 | I>M | No |
ExAC gnomAD |
|
| rs753188821 | 336 | Q>R | No |
ExAC gnomAD |
|
|
rs753188821 CA8620182 |
336 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs753188821 | 336 | Q>R | No |
ExAC gnomAD |
|
| rs758975301 | 338 | G>E | No |
ExAC gnomAD |
|
| rs758975301 | 338 | G>E | No |
ExAC gnomAD |
|
|
rs758975301 CA8620183 |
338 | G>E | No |
ClinGen ExAC gnomAD |
|
| rs1196166883 | 339 | S>G | No | gnomAD | |
|
rs1196166883 CA399984883 |
339 | S>G | No |
ClinGen gnomAD |
|
| rs1196166883 | 339 | S>G | No | gnomAD | |
| rs1489236440 | 341 | A>P | No | TOPMed | |
|
rs1489236440 CA399984900 |
341 | A>P | No |
ClinGen TOPMed |
|
| rs1489236440 | 341 | A>P | No | TOPMed | |
| rs1484554911 | 342 | G>S | No | gnomAD | |
|
CA399984905 rs1484554911 |
342 | G>S | No |
ClinGen gnomAD |
|
| rs1484554911 | 342 | G>S | No | gnomAD | |
| rs747396788 | 344 | T>M | No | ExAC | |
|
rs747396788 CA8620185 |
344 | T>M | No |
ClinGen ExAC |
|
| rs747396788 | 344 | T>M | No | ExAC | |
| rs1360377600 | 345 | G>E | No | TOPMed | |
|
CA399984927 rs1360377600 |
345 | G>E | No |
ClinGen TOPMed |
|
| rs1360377600 | 345 | G>E | No | TOPMed | |
| rs1267432426 | 349 | T>A | No | TOPMed | |
| rs1267432426 | 349 | T>A | No | TOPMed | |
|
CA399984953 rs1267432426 |
349 | T>A | No |
ClinGen TOPMed |
|
| rs1310502153 | 350 | V>I | No |
TOPMed gnomAD |
|
| rs1310502153 | 350 | V>I | No |
TOPMed gnomAD |
|
|
rs1310502153 CA399984959 |
350 | V>I | No |
ClinGen TOPMed gnomAD |
|
| rs1173116438 | 357 | K>R | No | gnomAD | |
|
rs1173116438 CA399985008 |
357 | K>R | No |
ClinGen gnomAD |
|
| rs1173116438 | 357 | K>R | No | gnomAD | |
|
CA399985143 rs1445810842 |
375 | R>K | No |
ClinGen gnomAD |
|
| rs1445810842 | 375 | R>K | No | gnomAD | |
| rs1445810842 | 375 | R>K | No | gnomAD | |
|
CA399985231 rs1598688513 |
388 | R>I | No |
ClinGen Ensembl |
|
| rs1598688513 | 388 | R>I | No | Ensembl | |
| rs1598688513 | 388 | R>I | No | Ensembl | |
|
rs1220993970 CA399985243 |
390 | E>G | No |
ClinGen TOPMed |
|
| rs1220993970 | 390 | E>G | No | TOPMed | |
| rs1220993970 | 390 | E>G | No | TOPMed | |
| rs760256579 | 395 | I>V | No | ExAC | |
| rs760256579 | 395 | I>V | No | ExAC | |
|
rs760256579 CA8620198 |
395 | I>V | No |
ClinGen ExAC |
|
|
CA291141797 rs903292132 |
397 | L>F | No |
ClinGen TOPMed |
|
| rs903292132 | 397 | L>F | No | TOPMed | |
| rs903292132 | 397 | L>F | No | TOPMed | |
| rs1171287021 | 399 | D>V | No | TOPMed | |
| rs1171287021 | 399 | D>V | No | TOPMed | |
|
CA399985319 rs1171287021 |
399 | D>V | No |
ClinGen TOPMed |
|
| rs1598689013 | 401 | K>E | No | Ensembl | |
| rs1598689013 | 401 | K>E | No | Ensembl | |
|
rs1598689013 CA399985333 |
401 | K>E | No |
ClinGen Ensembl |
|
| rs199531230 | 402 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs199531230 | 402 | G>D | No |
ExAC TOPMed gnomAD |
|
|
rs199531230 CA8620201 |
402 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1478771900 | 402 | G>R | No | TOPMed | |
|
CA399985341 rs1478771900 |
402 | G>R | No |
ClinGen TOPMed |
|
| rs1478771900 | 402 | G>R | No | TOPMed | |
| rs1192603472 | 403 | R>* | No | TOPMed | |
|
rs1192603472 CA399985346 |
403 | R>* | No |
ClinGen TOPMed |
|
| rs1192603472 | 403 | R>* | No | TOPMed | |
|
CA399985347 rs1350949739 |
403 | R>Q | No |
ClinGen gnomAD |
|
| rs1350949739 | 403 | R>Q | No | gnomAD | |
| rs1350949739 | 403 | R>Q | No | gnomAD | |
| rs1276240077 | 405 | Q>R | No |
TOPMed gnomAD |
|
| rs1276240077 | 405 | Q>R | No |
TOPMed gnomAD |
|
|
CA399985364 rs1276240077 |
405 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| rs1269699702 | 408 | H>Y | No | TOPMed | |
|
rs1269699702 CA399985394 |
408 | H>Y | No |
ClinGen TOPMed |
|
| rs1269699702 | 408 | H>Y | No | TOPMed | |
| rs1259124152 | 416 | G>E | No | TOPMed | |
| rs1259124152 | 416 | G>E | No | TOPMed | |
|
CA399985487 rs1259124152 |
416 | G>E | No |
ClinGen TOPMed |
|
| rs1338049817 | 420 | L>F | No | TOPMed | |
| rs1338049817 | 420 | L>F | No | TOPMed | |
|
rs1338049817 CA399985531 |
420 | L>F | No |
ClinGen TOPMed |
|
| rs1202264535 | 426 | I>M | No | TOPMed | |
|
rs1202264535 CA399985602 |
426 | I>M | No |
ClinGen TOPMed |
|
| rs1202264535 | 426 | I>M | No | TOPMed | |
| rs1033484667 | 426 | I>V | No |
TOPMed gnomAD |
|
|
CA291141871 rs1033484667 |
426 | I>V | No |
ClinGen TOPMed gnomAD |
|
| rs1033484667 | 426 | I>V | No |
TOPMed gnomAD |
|
|
RCV000709927 CA399985647 rs1568034157 |
430 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1568034157 | 430 | A>V | No | Ensembl | |
| rs1568034157 | 430 | A>V | No | Ensembl | |
| rs373218599 | 431 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
|
rs373218599 CA8620206 |
431 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs373218599 | 431 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1478414220 | 433 | T>P | No | gnomAD | |
|
CA399985674 rs1478414220 |
433 | T>P | No |
ClinGen gnomAD |
|
| rs1478414220 | 433 | T>P | No | gnomAD | |
|
CA8620209 rs780134959 |
446 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs780134959 | 446 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs780134959 | 446 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs1394278686 | 448 | A>V | No | TOPMed | |
|
CA399985839 rs1394278686 |
448 | A>V | No |
ClinGen TOPMed |
|
| rs1394278686 | 448 | A>V | No | TOPMed | |
| rs768550243 | 452 | A>D | No |
ExAC gnomAD |
|
| rs768550243 | 452 | A>D | No |
ExAC gnomAD |
|
|
CA8620211 rs768550243 |
452 | A>D | No |
ClinGen ExAC gnomAD |
|
| rs1159313599 | 453 | M>V | No | gnomAD | |
|
CA399985881 rs1159313599 |
453 | M>V | No |
ClinGen gnomAD |
|
| rs1159313599 | 453 | M>V | No | gnomAD | |
| rs369503467 | 460 | S>N | No |
ESP ExAC gnomAD |
|
| rs369503467 | 460 | S>N | No |
ESP ExAC gnomAD |
|
|
rs369503467 CA8620231 |
460 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
| rs758296498 | 461 | T>I | No |
ExAC TOPMed gnomAD |
|
|
CA8620233 rs758296498 |
461 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs758296498 | 461 | T>I | No |
ExAC TOPMed gnomAD |
|
|
CA8620234 rs758296498 |
461 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8620232 rs748010853 |
461 | T>S | No |
ClinGen ExAC gnomAD |
|
| rs758296498 | 461 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs748010853 | 461 | T>S | No |
ExAC gnomAD |
|
| rs748010853 | 461 | T>S | No |
ExAC gnomAD |
|
| rs758296498 | 461 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1217179212 | 466 | D>Y | No |
TOPMed gnomAD |
|
|
CA399986645 rs1217179212 |
466 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| rs1217179212 | 466 | D>Y | No |
TOPMed gnomAD |
|
|
CA399986686 rs1199310657 |
468 | E>K | No |
ClinGen gnomAD |
|
| rs1199310657 | 468 | E>K | No | gnomAD | |
| rs1199310657 | 468 | E>K | No | gnomAD | |
| rs1199310657 | 468 | E>Q | No | gnomAD | |
| rs1199310657 | 468 | E>Q | No | gnomAD | |
|
CA399986687 rs1199310657 |
468 | E>Q | No |
ClinGen gnomAD |
|
|
CA8620235 rs746825863 |
470 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746825863 | 470 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs746825863 | 470 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1436045862 | 472 | S>N | No | gnomAD | |
| rs1436045862 | 472 | S>N | No | gnomAD | |
|
CA399986760 rs1436045862 |
472 | S>N | No |
ClinGen gnomAD |
|
|
rs757532604 CA291143869 |
476 | T>M | No |
ClinGen Ensembl |
|
| rs757532604 | 476 | T>M | No | Ensembl | |
|
rs155733 VAR_029580 |
476 | T>M | No |
UniProt dbSNP |
|
| rs757532604 | 476 | T>M | No | Ensembl | |
| rs1465709359 | 477 | R>K | No | gnomAD | |
| rs1465709359 | 477 | R>K | No | gnomAD | |
|
CA399986841 rs1465709359 |
477 | R>K | No |
ClinGen gnomAD |
|
| rs769365188 | 478 | G>E | No |
ExAC gnomAD |
|
| rs769365188 | 478 | G>E | No |
ExAC gnomAD |
|
|
CA8620239 rs769365188 |
478 | G>E | No |
ClinGen ExAC gnomAD |
|
| rs1348931928 | 483 | S>A | No | TOPMed | |
| rs1348931928 | 483 | S>A | No | TOPMed | |
|
rs1348931928 CA399986932 |
483 | S>A | No |
ClinGen TOPMed |
|
|
rs762333917 CA8620241 |
488 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs762333917 | 488 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs762333917 | 488 | I>V | No |
ExAC TOPMed gnomAD |
|
|
rs1198506124 CA399987058 |
490 | P>A | No |
ClinGen gnomAD |
|
| rs1198506124 | 490 | P>A | No | gnomAD | |
| rs1198506124 | 490 | P>A | No | gnomAD | |
| rs1467081686 | 491 | A>V | No | gnomAD | |
|
CA399987895 rs1467081686 |
491 | A>V | No |
ClinGen gnomAD |
|
| rs1467081686 | 491 | A>V | No | gnomAD | |
|
CA8620254 rs777607593 |
499 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs777607593 | 499 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs777607593 | 499 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs1403489443 | 500 | A>T | No | gnomAD | |
|
rs1403489443 CA399987955 |
500 | A>T | No |
ClinGen gnomAD |
|
| rs1403489443 | 500 | A>T | No | gnomAD | |
| rs746810921 | 503 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs746810921 | 503 | I>S | No |
ExAC TOPMed gnomAD |
|
|
rs746810921 CA8620255 |
503 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746810921 | 503 | I>T | No |
ExAC TOPMed gnomAD |
|
|
rs746810921 CA399987981 |
503 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746810921 | 503 | I>T | No |
ExAC TOPMed gnomAD |
|
|
rs376914472 CA399988001 |
506 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs376914472 | 506 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs376914472 | 506 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs376914472 | 506 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs376914472 | 506 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
|
CA8620257 rs376914472 |
506 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs769594542 | 511 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs769594542 | 511 | G>S | No |
ExAC TOPMed gnomAD |
|
|
CA8620259 rs769594542 |
511 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8620260 rs374585893 |
511 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs374585893 | 511 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs374585893 | 511 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs748790167 | 512 | D>H | No |
ExAC gnomAD |
|
|
rs748790167 CA8620261 |
512 | D>H | No |
ClinGen ExAC gnomAD |
|
| rs748790167 | 512 | D>H | No |
ExAC gnomAD |
|
|
CA8620262 rs548528596 |
513 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs548528596 | 513 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs548528596 | 513 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs773649875 | 514 | V>I | No |
ExAC gnomAD |
|
| rs773649875 | 514 | V>I | No |
ExAC gnomAD |
|
|
rs773649875 CA8620263 |
514 | V>I | No |
ClinGen ExAC gnomAD |
|
| rs1208602090 | 515 | T>S | No | gnomAD | |
| rs1208602090 | 515 | T>S | No | gnomAD | |
|
CA399988062 rs1208602090 |
515 | T>S | No |
ClinGen gnomAD |
|
| rs761257406 | 516 | R>Q | No |
ExAC gnomAD |
|
| rs761257406 | 516 | R>Q | No |
ExAC gnomAD |
|
|
rs761257406 CA8620264 |
516 | R>Q | No |
ClinGen ExAC gnomAD |
|
| rs1488487059 | 517 | V>L | No | gnomAD | |
| rs1488487059 | 517 | V>L | No | gnomAD | |
|
CA399988068 rs1488487059 |
517 | V>L | No |
ClinGen gnomAD |
|
| rs759703171 | 524 | L>V | No |
ExAC gnomAD |
|
| rs759703171 | 524 | L>V | No |
ExAC gnomAD |
|
|
CA8620267 rs759703171 |
524 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA399988130 rs1393935019 |
526 | Q>H | No |
ClinGen gnomAD |
|
| rs1393935019 | 526 | Q>H | No | gnomAD | |
| rs1393935019 | 526 | Q>H | No | gnomAD | |
|
CA399988132 rs1454271621 |
527 | Q>* | No |
ClinGen gnomAD |
|
| rs1454271621 | 527 | Q>* | No | gnomAD | |
| rs1454271621 | 527 | Q>* | No | gnomAD | |
| rs1172296221 | 529 | K>E | No | gnomAD | |
| rs1172296221 | 529 | K>E | No | gnomAD | |
|
CA399988147 rs1172296221 |
529 | K>E | No |
ClinGen gnomAD |
|
|
CA8620269 rs562171215 |
529 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs562171215 | 529 | K>N | No |
1000Genomes ExAC gnomAD |
|
| rs562171215 | 529 | K>N | No |
1000Genomes ExAC gnomAD |
|
| rs368386595 | 533 | R>C | No |
ESP ExAC TOPMed |
|
|
CA8620270 rs368386595 |
533 | R>C | No |
ClinGen ESP ExAC TOPMed |
|
| rs368386595 | 533 | R>C | No |
ESP ExAC TOPMed |
|
|
rs1420619832 COSM1383859 CA399988178 |
533 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1420619832 | 533 | R>H | No | gnomAD | |
| rs1420619832 | 533 | R>H | No | gnomAD | |
|
rs1014493256 CA291147200 |
537 | V>G | No |
ClinGen Ensembl |
|
| rs1014493256 | 537 | V>G | No | Ensembl | |
| rs1014493256 | 537 | V>G | No | Ensembl | |
|
rs376260812 CA291147202 |
538 | S>C | No |
ClinGen ESP |
|
| rs376260812 | 538 | S>C | No | ESP | |
| rs376260812 | 538 | S>C | No | ESP | |
| rs1383001763 | 538 | S>N | No |
TOPMed gnomAD |
|
| rs1383001763 | 538 | S>N | No |
TOPMed gnomAD |
|
|
rs1383001763 CA399988207 |
538 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399988208 rs1383001763 |
538 | S>T | No |
ClinGen TOPMed gnomAD |
|
| rs1383001763 | 538 | S>T | No |
TOPMed gnomAD |
|
| rs1383001763 | 538 | S>T | No |
TOPMed gnomAD |
|
|
CA8620272 rs530978825 |
539 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs530978825 | 539 | V>M | No |
1000Genomes ExAC gnomAD |
|
| rs530978825 | 539 | V>M | No |
1000Genomes ExAC gnomAD |
|
|
CA8620273 rs757252109 |
542 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs757252109 | 542 | E>K | No |
ExAC gnomAD |
|
| rs757252109 | 542 | E>K | No |
ExAC gnomAD |
|
|
CA8620286 rs769995234 |
544 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs769995234 | 544 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs769995234 | 544 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1481268654 | 545 | P>S | No | gnomAD | |
|
rs1481268654 CA399988852 |
545 | P>S | No |
ClinGen gnomAD |
|
| rs1481268654 | 545 | P>S | No | gnomAD | |
|
CA291148737 rs374940105 |
547 | S>G | No |
ClinGen ESP |
|
| rs374940105 | 547 | S>G | No | ESP | |
| rs374940105 | 547 | S>G | No | ESP | |
| rs763244195 | 550 | T>A | No |
ExAC TOPMed gnomAD |
|
|
rs763244195 CA8620288 |
550 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs763244195 | 550 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1248932450 | 553 | A>T | No | gnomAD | |
| rs1248932450 | 553 | A>T | No | gnomAD | |
|
rs1248932450 CA399989003 |
553 | A>T | No |
ClinGen gnomAD |
|
| rs1425866561 | 553 | A>V | No | gnomAD | |
|
rs1425866561 CA399989016 |
553 | A>V | No |
ClinGen gnomAD |
|
| rs1425866561 | 553 | A>V | No | gnomAD | |
|
rs868733216 CA291148745 |
554 | A>T | No |
ClinGen Ensembl |
|
| rs868733216 | 554 | A>T | No | Ensembl | |
| rs868733216 | 554 | A>T | No | Ensembl | |
|
rs764044320 CA8620289 |
555 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs764044320 | 555 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs764044320 | 555 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs751685291 | 559 | E>D | No |
ExAC gnomAD |
|
| rs751685291 | 559 | E>D | No |
ExAC gnomAD |
|
|
CA8620290 rs751685291 |
559 | E>D | No |
ClinGen ExAC gnomAD |
|
| rs780661625 | 561 | N>S | No |
ExAC gnomAD |
|
| rs780661625 | 561 | N>S | No |
ExAC gnomAD |
|
|
rs780661625 CA8620292 |
561 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA399989371 rs1317269404 |
572 | K>I | No |
ClinGen TOPMed |
|
| rs1317269404 | 572 | K>I | No | TOPMed | |
| rs1317269404 | 572 | K>I | No | TOPMed | |
| rs756032532 | 576 | F>S | No |
ExAC gnomAD |
|
|
CA8620294 rs756032532 |
576 | F>S | No |
ClinGen ExAC gnomAD |
|
| rs756032532 | 576 | F>S | No |
ExAC gnomAD |
|
| rs371820809 | 579 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs371820809 | 579 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
|
CA8620297 rs371820809 |
579 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8620296 rs753364460 |
579 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs753364460 | 579 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs753364460 | 579 | T>P | No |
ExAC TOPMed gnomAD |
|
|
CA8620298 rs778236079 |
580 | A>P | No |
ClinGen ExAC gnomAD |
|
| rs778236079 | 580 | A>P | No |
ExAC gnomAD |
|
| rs778236079 | 580 | A>P | No |
ExAC gnomAD |
|
| rs578072950 | 585 | M>V | No |
1000Genomes ExAC gnomAD |
|
|
rs578072950 CA8620299 |
585 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs578072950 | 585 | M>V | No |
1000Genomes ExAC gnomAD |
|
|
rs753687735 CA8620316 |
588 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs753687735 | 588 | I>V | No |
ExAC gnomAD |
|
| rs753687735 | 588 | I>V | No |
ExAC gnomAD |
|
| rs1294098223 | 590 | D>G | No | gnomAD | |
|
CA399991932 rs1294098223 |
590 | D>G | No |
ClinGen gnomAD |
|
| rs1294098223 | 590 | D>G | No | gnomAD | |
| rs1212193555 | 592 | A>T | No | gnomAD | |
|
rs1212193555 CA399991958 |
592 | A>T | No |
ClinGen gnomAD |
|
| rs1212193555 | 592 | A>T | No | gnomAD | |
|
CA8620318 rs764979067 |
592 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs764979067 | 592 | A>V | No |
ExAC gnomAD |
|
| rs764979067 | 592 | A>V | No |
ExAC gnomAD |
|
| rs1598719647 | 594 | K>R | No | Ensembl | |
| rs1598719647 | 594 | K>R | No | Ensembl | |
|
CA399991997 rs1598719647 |
594 | K>R | No |
ClinGen Ensembl |
|
| rs1242871424 | 599 | C>F | No | gnomAD | |
| rs1242871424 | 599 | C>F | No | gnomAD | |
|
CA399992073 rs1242871424 |
599 | C>F | No |
ClinGen gnomAD |
|
| rs777274661 | 602 | V>M | No |
ExAC gnomAD |
|
| rs777274661 | 602 | V>M | No |
ExAC gnomAD |
|
|
CA8620321 rs777274661 |
602 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA291154804 rs999768526 |
604 | D>N | No |
ClinGen TOPMed gnomAD |
|
| rs999768526 | 604 | D>N | No |
TOPMed gnomAD |
|
| rs999768526 | 604 | D>N | No |
TOPMed gnomAD |
|
|
CA8620323 rs756640438 |
605 | I>T | No |
ClinGen ExAC gnomAD |
|
| rs756640438 | 605 | I>T | No |
ExAC gnomAD |
|
| rs756640438 | 605 | I>T | No |
ExAC gnomAD |
|
| rs988789457 | 606 | E>G | No | TOPMed | |
| rs988789457 | 606 | E>G | No | TOPMed | |
|
rs988789457 CA291154815 |
606 | E>G | No |
ClinGen TOPMed |
|
|
rs749703543 CA8620325 |
609 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs749703543 | 609 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs749703543 | 609 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs749703543 | 609 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs749703543 | 609 | L>V | No |
ExAC TOPMed gnomAD |
|
|
rs749703543 CA399992202 |
609 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768757726 CA399992211 |
610 | D>H | No |
ClinGen ExAC gnomAD |
|
| rs768757726 | 610 | D>H | No |
ExAC gnomAD |
|
| rs768757726 | 610 | D>H | No |
ExAC gnomAD |
|
| rs768757726 | 610 | D>N | No |
ExAC gnomAD |
|
|
CA8620326 rs768757726 |
610 | D>N | No |
ClinGen ExAC gnomAD |
|
| rs768757726 | 610 | D>N | No |
ExAC gnomAD |
|
| rs755313462 | 611 | Y>H | No |
ExAC gnomAD |
|
| rs755313462 | 611 | Y>H | No |
ExAC gnomAD |
|
|
rs755313462 CA8620344 |
611 | Y>H | No |
ClinGen ExAC gnomAD |
|
| rs1369484479 | 612 | V>I | No | gnomAD | |
| rs1369484479 | 612 | V>I | No | gnomAD | |
|
CA399992376 rs1369484479 |
612 | V>I | No |
ClinGen gnomAD |
|
|
rs1475902861 CA399992409 |
614 | I>T | No |
ClinGen TOPMed |
|
| rs1475902861 | 614 | I>T | No | TOPMed | |
| rs1475902861 | 614 | I>T | No | TOPMed | |
| rs779152160 | 617 | R>* | No |
ExAC gnomAD |
|
|
rs779152160 CA8620345 |
617 | R>* | No |
ClinGen ExAC gnomAD |
|
| rs779152160 | 617 | R>* | No |
ExAC gnomAD |
|
|
rs373778816 CA291155465 |
625 | A>T | No |
ClinGen ESP TOPMed |
|
| rs373778816 | 625 | A>T | No |
ESP TOPMed |
|
| rs373778816 | 625 | A>T | No |
ESP TOPMed |
|
| rs1048732213 | 626 | L>F | No |
TOPMed gnomAD |
|
| rs1048732213 | 626 | L>F | No |
TOPMed gnomAD |
|
|
rs1048732213 CA291155467 |
626 | L>F | No |
ClinGen TOPMed gnomAD |
|
| rs773404010 | 628 | V>I | No |
ExAC gnomAD |
|
| rs773404010 | 628 | V>I | No |
ExAC gnomAD |
|
|
COSM980334 rs773404010 CA8620348 |
628 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs747124941 | 633 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs747124941 CA8620349 |
633 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs747124941 | 633 | A>V | No |
ExAC TOPMed gnomAD |
|
|
CA399992678 rs1254128765 |
635 | P>S | No |
ClinGen TOPMed |
|
| rs1254128765 | 635 | P>S | No | TOPMed | |
| rs1254128765 | 635 | P>S | No | TOPMed | |
| rs376204380 | 636 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs376204380 | 636 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
|
rs376204380 CA8620351 |
636 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778204437 CA8620368 |
637 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs778204437 | 637 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs778204437 | 637 | G>C | No |
ExAC TOPMed gnomAD |
|
|
CA399995812 rs1474711596 |
639 | K>R | No |
ClinGen gnomAD |
|
| rs1474711596 | 639 | K>R | No | gnomAD | |
| rs1474711596 | 639 | K>R | No | gnomAD | |
| rs1568061985 | 643 | I>T | No | Ensembl | |
| rs1568061985 | 643 | I>T | No | Ensembl | |
|
CA399995864 rs1568061985 |
643 | I>T | No |
ClinGen Ensembl |
|
| rs1185341728 | 646 | T>A | No | gnomAD | |
| rs1185341728 | 646 | T>A | No | gnomAD | |
|
rs1185341728 CA399995888 |
646 | T>A | No |
ClinGen gnomAD |
|
| rs747042700 | 647 | S>R | No |
ExAC gnomAD |
|
|
CA8620369 rs747042700 |
647 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs747042700 | 647 | S>R | No |
ExAC gnomAD |
|
| rs1475423675 | 648 | R>C | No |
TOPMed gnomAD |
|
|
rs1475423675 CA399995918 |
648 | R>C | No |
ClinGen TOPMed gnomAD |
|
| rs1475423675 | 648 | R>C | No |
TOPMed gnomAD |
|
| rs1169022114 | 648 | R>H | No |
TOPMed gnomAD |
|
|
CA399995919 rs1169022114 |
648 | R>H | No |
ClinGen TOPMed gnomAD |
|
| rs1169022114 | 648 | R>H | No |
TOPMed gnomAD |
|
| rs1315242198 | 657 | M>T | No | gnomAD | |
| rs1315242198 | 657 | M>T | No | gnomAD | |
|
CA399996022 rs1315242198 |
657 | M>T | No |
ClinGen gnomAD |
|
|
CA8620371 rs781133970 |
658 | L>V | No |
ClinGen ExAC gnomAD |
|
| rs781133970 | 658 | L>V | No |
ExAC gnomAD |
|
| rs781133970 | 658 | L>V | No |
ExAC gnomAD |
|
|
COSM2695992 CA8620373 rs769671693 |
660 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs769671693 | 660 | A>T | No |
ExAC gnomAD |
|
| rs769671693 | 660 | A>T | No |
ExAC gnomAD |
|
|
CA8620376 rs117674170 |
664 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs117674170 | 664 | T>A | No |
1000Genomes ExAC gnomAD |
|
| rs117674170 | 664 | T>A | No |
1000Genomes ExAC gnomAD |
|
| rs1337427821 | 665 | I>V | No | gnomAD | |
|
rs1337427821 CA399996114 |
665 | I>V | No |
ClinGen gnomAD |
|
| rs1337427821 | 665 | I>V | No | gnomAD | |
| rs371727681 | 666 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
CA8620379 rs371727681 |
666 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs371727681 | 666 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
CA8620380 rs749922582 |
667 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs749922582 | 667 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs749922582 | 667 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs760063662 | 668 | P>S | No |
ExAC TOPMed gnomAD |
|
|
CA8620381 rs760063662 |
668 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs760063662 | 668 | P>S | No |
ExAC TOPMed gnomAD |
|
|
CA8620382 rs765884403 |
669 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs765884403 | 669 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs765884403 | 669 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs758887741 | 672 | T>S | No |
ExAC gnomAD |
|
| rs758887741 | 672 | T>S | No |
ExAC gnomAD |
|
|
CA8620384 rs758887741 |
672 | T>S | No |
ClinGen ExAC gnomAD |
|
| rs1370818102 | 673 | G>R | No | gnomAD | |
| rs1370818102 | 673 | G>R | No | gnomAD | |
|
CA399996217 rs1370818102 |
673 | G>R | No |
ClinGen gnomAD |
|
| rs1474745775 | 674 | E>G | No | gnomAD | |
|
CA399996242 rs1474745775 |
674 | E>G | No |
ClinGen gnomAD |
|
| rs1474745775 | 674 | E>G | No | gnomAD | |
| rs918256086 | 674 | E>K | No | Ensembl | |
|
rs918256086 CA291160600 |
674 | E>K | No |
ClinGen Ensembl |
|
| rs918256086 | 674 | E>K | No | Ensembl | |
| rs1196066355 | 686 | F>L | No | gnomAD | |
| rs1196066355 | 686 | F>L | No | gnomAD | |
|
CA399997094 rs1196066355 |
686 | F>L | No |
ClinGen gnomAD |
|
| rs375174991 | 687 | K>M | No |
ESP ExAC TOPMed gnomAD |
|
|
CA399997100 rs375174991 |
687 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs375174991 | 687 | K>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs375174991 | 687 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
|
rs375174991 CA8620395 |
687 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs375174991 | 687 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs540304545 | 691 | R>C | No |
1000Genomes ExAC gnomAD |
|
| rs540304545 | 691 | R>C | No |
1000Genomes ExAC gnomAD |
|
|
rs540304545 CA8620397 |
691 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1257691732 CA399997136 |
691 | R>H | No |
ClinGen TOPMed |
|
| rs1257691732 | 691 | R>H | No | TOPMed | |
| rs1257691732 | 691 | R>H | No | TOPMed | |
| rs373537714 | 692 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs373537714 | 692 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
|
CA8620398 rs373537714 |
692 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1311518313 | 693 | T>A | No | TOPMed | |
| rs1311518313 | 693 | T>A | No | TOPMed | |
|
CA399997155 rs1311518313 |
693 | T>A | No |
ClinGen TOPMed |
|
| rs1454565367 | 695 | A>V | No |
TOPMed gnomAD |
|
| rs1454565367 | 695 | A>V | No |
TOPMed gnomAD |
|
|
rs1454565367 CA399997183 |
695 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs1158145218 | 697 | Q>H | No | gnomAD | |
|
rs1158145218 CA399997211 |
697 | Q>H | No |
ClinGen gnomAD |
|
| rs1158145218 | 697 | Q>H | No | gnomAD | |
| rs1374990100 | 701 | K>E | No | TOPMed | |
|
rs1374990100 CA399997251 |
701 | K>E | No |
ClinGen TOPMed |
|
| rs1374990100 | 701 | K>E | No | TOPMed | |
| rs529221896 | 705 | I>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs529221896 | 705 | I>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA8620402 rs529221896 |
705 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs529221896 | 705 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs529221896 CA8620403 |
705 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs529221896 | 705 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1286704 rs751921136 CA8620404 |
708 | K>R | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| rs751921136 | 708 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs751921136 | 708 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1317287847 | 710 | L>* | No | gnomAD | |
| rs1317287847 | 710 | L>* | No | gnomAD | |
|
CA399997374 rs1317287847 |
710 | L>* | No |
ClinGen gnomAD |
|
|
rs1213726832 CA399997450 |
716 | M>V | No |
ClinGen gnomAD |
|
| rs1213726832 | 716 | M>V | No | gnomAD | |
| rs1213726832 | 716 | M>V | No | gnomAD | |
|
rs756042382 CA291160954 |
719 | Q>R | No |
ClinGen gnomAD |
|
| rs756042382 | 719 | Q>R | No | gnomAD | |
| rs756042382 | 719 | Q>R | No | gnomAD | |
| rs1250035368 | 720 | M>V | No | gnomAD | |
| rs1250035368 | 720 | M>V | No | gnomAD | |
|
CA399997577 rs1250035368 |
720 | M>V | No |
ClinGen gnomAD |
|
|
rs988366760 CA399997594 |
722 | P>A | No |
ClinGen TOPMed gnomAD |
|
| rs988366760 | 722 | P>A | No |
TOPMed gnomAD |
|
| rs988366760 | 722 | P>A | No |
TOPMed gnomAD |
|
| rs988366760 | 722 | P>S | No |
TOPMed gnomAD |
|
|
CA291161810 rs988366760 |
722 | P>S | No |
ClinGen TOPMed gnomAD |
|
| rs988366760 | 722 | P>S | No |
TOPMed gnomAD |
|
| rs750545201 | 723 | E>K | No |
ExAC TOPMed gnomAD |
|
|
CA8620424 rs750545201 |
723 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs750545201 | 723 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs756360308 | 724 | Y>H | No |
ExAC TOPMed gnomAD |
|
|
rs756360308 CA8620425 |
724 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs756360308 | 724 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs766398347 | 725 | R>C | No |
ExAC TOPMed gnomAD |
|
|
CA8620426 rs766398347 |
725 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs766398347 | 725 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs551086101 | 725 | R>H | No |
1000Genomes ExAC gnomAD |
|
| rs551086101 | 725 | R>H | No |
1000Genomes ExAC gnomAD |
|
|
CA8620427 rs551086101 |
725 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399997626 rs1461390344 |
727 | R>I | No |
ClinGen gnomAD |
|
| rs1461390344 | 727 | R>I | No | gnomAD | |
| rs1461390344 | 727 | R>I | No | gnomAD | |
|
rs986200060 CA291161821 |
736 | E>D | No |
ClinGen TOPMed gnomAD |
|
| rs986200060 | 736 | E>D | No |
TOPMed gnomAD |
|
| rs986200060 | 736 | E>D | No |
TOPMed gnomAD |
|
|
CA399997696 rs754877193 |
737 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs754877193 | 737 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs754877193 | 737 | G>A | No |
ExAC TOPMed gnomAD |
|
|
CA8620429 rs754877193 |
737 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs754877193 | 737 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs754877193 | 737 | G>E | No |
ExAC TOPMed gnomAD |
|
|
rs1415028558 CA399997693 |
737 | G>R | No |
ClinGen gnomAD |
|
| rs1415028558 | 737 | G>R | No | gnomAD | |
| rs1415028558 | 737 | G>R | No | gnomAD | |
|
CA399997698 rs1198994502 |
738 | A>T | No |
ClinGen TOPMed |
|
| rs1198994502 | 738 | A>T | No | TOPMed | |
| rs1198994502 | 738 | A>T | No | TOPMed | |
| rs751023490 | 738 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs751023490 CA8620430 |
738 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751023490 | 738 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1295271494 | 739 | S>N | No | gnomAD | |
| rs1295271494 | 739 | S>N | No | gnomAD | |
|
rs1295271494 CA399997718 |
739 | S>N | No |
ClinGen gnomAD |
|
| rs773532629 | 739 | S>R | No |
ExAC gnomAD |
|
| rs773532629 | 739 | S>R | No |
ExAC gnomAD |
|
|
rs773532629 CA8620464 |
739 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs761093212 | 740 | P>A | No |
ExAC gnomAD |
|
| rs761093212 | 740 | P>A | No |
ExAC gnomAD |
|
|
CA8620465 rs761093212 |
740 | P>A | No |
ClinGen ExAC gnomAD |
|
| rs1287583072 | 742 | D>N | No | gnomAD | |
| rs1287583072 | 742 | D>N | No | gnomAD | |
|
rs1287583072 CA399997731 |
742 | D>N | No |
ClinGen gnomAD |
|
| rs184779776 | 744 | D>N | No |
1000Genomes ExAC gnomAD |
|
| rs184779776 | 744 | D>N | No |
1000Genomes ExAC gnomAD |
|
|
CA8620466 rs184779776 |
744 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs372379769 | 745 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs372379769 | 745 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
|
rs372379769 CA8620467 |
745 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with P46459
15 regional properties for P46459
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CRIB domain | 1585 - 1620 | IPR000095 |
| domain | Protein kinase domain | 76 - 342 | IPR000719 |
| domain | AGC-kinase, C-terminal | 343 - 413 | IPR000961 |
| domain | Citron homology (CNH) domain | 1240 - 1521 | IPR001180 |
| domain | Pleckstrin homology domain | 1096 - 1217 | IPR001849 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 1026 - 1077 | IPR002219 |
| active_site | Serine/threonine-protein kinase, active site | 196 - 208 | IPR008271 |
| domain | Myotonic dystrophy protein kinase, coiled coil | 878 - 939 | IPR014930 |
| binding_site | Protein kinase, ATP binding site | 82 - 105 | IPR017441 |
| domain | Diacylglycerol/phorbol-ester binding | 1024 - 1038 | IPR020454-1 |
| domain | Diacylglycerol/phorbol-ester binding | 1040 - 1049 | IPR020454-2 |
| domain | Diacylglycerol/phorbol-ester binding | 1053 - 1064 | IPR020454-3 |
| domain | Diacylglycerol/phorbol-ester binding | 1065 - 1077 | IPR020454-4 |
| domain | KELK-motif containing domain | 528 - 606 | IPR031597 |
| domain | Serine/threonine-protein kinase MRCK beta, catalytic domain | 3 - 411 | IPR042718 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.6 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendritic shaft | Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines. |
| 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. |
| Golgi stack | The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ionotropic glutamate receptor binding | Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels. |
| metal ion binding | Binding to a metal ion. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| protein disaggregase activity | An ATP-dependent molecular chaperone activity that mediates the solubilization of ordered protein aggregates. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
| syntaxin-1 binding | Binding to a syntaxin-1 SNAP receptor. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| Golgi to plasma membrane protein transport | The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane. |
| Golgi vesicle docking | The initial attachment of a Golgi transport vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the Golgi vesicle and the target membrane. |
| intra-Golgi vesicle-mediated transport | The directed movement of substances within the Golgi, mediated by small transport vesicles. These either fuse with the cis-Golgi or with each other to form the membrane stacks known as the cis-Golgi reticulum (network). |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| plasma membrane fusion | The joining of the lipid bilayer membrane that surround a cell with that of another cell, producing a single cell. |
| positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| positive regulation of receptor recycling | Any process that activates or increases the frequency, rate or extent of receptor recycling. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of exocytosis | Any process that modulates the frequency, rate or extent of exocytosis. |
| SNARE complex disassembly | The disaggregation of the SNARE protein complex into its constituent components. The SNARE complex is a protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P46461 | comt | Vesicle-fusing ATPase 1 | Drosophila melanogaster (Fruit fly) | SS |
| P54351 | Nsf2 | Vesicle-fusing ATPase 2 | Drosophila melanogaster (Fruit fly) | SS |
| P46460 | Nsf | Vesicle-fusing ATPase | Mus musculus (Mouse) | SS |
| Q9QUL6 | Nsf | Vesicle-fusing ATPase | Rattus norvegicus (Rat) | SS |
| Q94392 | nsf-1 | Vesicle-fusing ATPase | Caenorhabditis elegans | SS |
| Q9M0Y8 | NSF | Vesicle-fusing ATPase | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGRSMQAAR | CPTDELSLTN | CAVVNEKDFQ | SGQHVIVRTS | PNHRYTFTLK | THPSVVPGSI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AFSLPQRKWA | GLSIGQEIEV | SLYTFDKAKQ | CIGTMTIEID | FLQKKSIDSN | PYDTDKMAAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FIQQFNNQAF | SVGQQLVFSF | NEKLFGLLVK | DIEAMDPSIL | KGEPATGKRQ | KIEVGLVVGN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SQVAFEKAEN | SSLNLIGKAK | TKENRQSIIN | PDWNFEKMGI | GGLDKEFSDI | FRRAFASRVF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PPEIVEQMGC | KHVKGILLYG | PPGCGKTLLA | RQIGKMLNAR | EPKVVNGPEI | LNKYVGESEA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NIRKLFADAE | EEQRRLGANS | GLHIIIFDEI | DAICKQRGSM | AGSTGVHDTV | VNQLLSKIDG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VEQLNNILVI | GMTNRPDLID | EALLRPGRLE | VKMEIGLPDE | KGRLQILHIH | TARMRGHQLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SADVDIKELA | VETKNFSGAE | LEGLVRAAQS | TAMNRHIKAS | TKVEVDMEKA | ESLQVTRGDF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LASLENDIKP | AFGTNQEDYA | SYIMNGIIKW | GDPVTRVLDD | GELLVQQTKN | SDRTPLVSVL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LEGPPHSGKT | ALAAKIAEES | NFPFIKICSP | DKMIGFSETA | KCQAMKKIFD | DAYKSQLSCV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VVDDIERLLD | YVPIGPRFSN | LVLQALLVLL | KKAPPQGRKL | LIIGTTSRKD | VLQEMEMLNA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FSTTIHVPNI | ATGEQLLEAL | ELLGNFKDKE | RTTIAQQVKG | KKVWIGIKKL | LMLIEMSLQM |
| 730 | 740 | ||||
| DPEYRVRKFL | ALLREEGASP | LDFD |