RPH3AL
rabphilin 3A like (without C2 domains)
Summary
The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760424872 | 17:63,675 | C/A | — | uncertain significance |
| rs758708385 | 17:63,687 | C/T | — | uncertain significance |
| rs201484999 | 17:65,446 | G/A | — | likely benign |
| rs182695940 | 17:65,466 | G/A | — | likely benign |
| rs201204475 | 17:65,471 | G/A | — | uncertain significance |
| rs1170052582 | 17:65,474 | G/C | — | uncertain significance |
| rs370194292 | 17:65,485 | G/A | — | uncertain significance |
| rs1433459011 | 17:65,501 | T/A | — | uncertain significance |
| rs1204012571 | 17:65,503 | C/A | — | uncertain significance |
| rs758588844 | 17:65,512 | C/G | — | uncertain significance |
| rs753031270 | 17:65,549 | C/T | — | likely benign |
| rs370733508 | 17:65,554 | G/A | — | uncertain significance |
| rs1179963143 | 17:65,578 | G/A | — | uncertain significance |
| rs765780150 | 17:69,444 | G/A | — | uncertain significance |
| rs1180175646 | 17:69,450 | T/C | — | uncertain significance |
| rs928514923 | 17:69,453 | C/A | — | uncertain significance |
| rs144349012 | 17:69,485 | G/C | — | uncertain significance |
| rs775093419 | 17:69,512 | C/T | — | uncertain significance |
| rs71247272 | 17:70,212 | G/A | — | — |
| rs867931530 | 17:86,428 | A/T | — | — |
| rs371456304 | 17:96,929 | G/A | — | uncertain significance |
| rs373218551 | 17:96,964 | G/A | — | uncertain significance |
| rs201388907 | 17:96,991 | G/A | — | uncertain significance |
| rs568520768 | 17:97,003 | C/T | — | uncertain significance |
| rs554928064 | 17:97,012 | G/A | — | uncertain significance |
| rs753899151 | 17:97,040 | G/A | — | uncertain significance |
| rs201823029 | 17:97,060 | C/T | — | uncertain significance |
| rs144718442 | 17:97,063 | G/C | — | uncertain significance |
| rs114064224 | 17:113,593 | T/G | — | — |
| rs184701620 | 17:116,290 | G/A | intron variant | — |
| rs2044398307 | 17:169,273 | G/A | — | uncertain significance |
| rs946757521 | 17:177,280 | G/A | — | uncertain significance |
| rs143383614 | 17:177,310 | C/T | — | uncertain significance |
| rs376660379 | 17:177,316 | C/T | — | likely benign |
| rs533978966 | 17:185,873 | G/C | — | — |
| rs558760274 | 17:185,874 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.