RPH3A
rabphilin 3A
Summary
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs568027852 | 12:113,013,146 | G/A | — | — |
| rs233725 | 12:113,026,261 | A/G | intron variant | — |
| rs11831995 | 12:113,027,020 | C/T | intron variant | — |
| rs11066359 | 12:113,045,654 | C/T | intron variant | — |
| rs17824620 | 12:113,100,994 | C/A | intron variant | — |
| rs111564953 | 12:113,108,572 | T/A | — | — |
| rs77753011 | 12:113,117,897 | G/T | intron variant | — |
| rs7312122 | 12:113,158,838 | G/T | — | — |
| rs12315338 | 12:113,163,639 | T/A | — | — |
| rs11066390 | 12:113,163,766 | A/G | intron variant | — |
| rs11066395 | 12:113,168,961 | C/A | intron variant | — |
| rs3803064 | 12:113,173,494 | G/A | intron variant | — |
| rs6489857 | 12:113,176,166 | A/G | — | — |
| rs2041915008 | 12:113,266,154 | A/G | — | uncertain significance |
| rs535623413 | 12:113,266,157 | C/G | — | uncertain significance |
| rs369903047 | 12:113,266,178 | C/T | — | uncertain significance |
| rs10492025 | 12:113,273,050 | C/T | intron variant | — |
| rs374085633 | 12:113,285,527 | C/A | — | uncertain significance |
| rs756126635 | 12:113,285,532 | G/T | — | uncertain significance |
| rs146502002 | 12:113,285,551 | G/A | — | uncertain significance |
| rs556612058 | 12:113,285,569 | C/G | — | uncertain significance |
| rs373466378 | 12:113,285,595 | A/G | — | uncertain significance |
| rs375430419 | 12:113,285,646 | G/A | — | uncertain significance |
| rs554927860 | 12:113,294,586 | T/C | — | — |
| rs1229317710 | 12:113,303,256 | G/A | — | uncertain significance |
| rs1387785097 | 12:113,303,336 | G/T | — | uncertain significance |
| rs764003900 | 12:113,304,590 | C/A | — | uncertain significance |
| rs567474017 | 12:113,304,601 | C/G | — | uncertain significance |
| rs149650638 | 12:113,306,244 | C/T | — | uncertain significance |
| rs780226067 | 12:113,306,286 | C/T | — | uncertain significance |
| rs2540837957 | 12:113,306,376 | C/A | — | uncertain significance |
| rs780171130 | 12:113,306,385 | C/T | — | uncertain significance |
| rs371005298 | 12:113,306,392 | C/T | — | uncertain significance |
| rs113019698 | 12:113,306,398 | G/A | — | benign |
| rs576092129 | 12:113,307,588 | C/T | — | uncertain significance |
| rs924513696 | 12:113,307,591 | G/A | — | uncertain significance |
| rs139152687 | 12:113,307,721 | G/C | — | uncertain significance |
| rs149945171 | 12:113,307,744 | C/T | — | benign |
| rs779991033 | 12:113,307,811 | G/C | — | pathogenic |
| rs147818920 | 12:113,307,812 | G/C | — | uncertain significance |
| rs368311022 | 12:113,307,833 | G/A | — | uncertain significance |
| rs746199452 | 12:113,307,842 | C/A | — | uncertain significance |
| rs747386839 | 12:113,312,909 | G/T | — | uncertain significance |
| rs1364379339 | 12:113,313,496 | G/A | — | uncertain significance |
| rs35786803 | 12:113,314,478 | C/G | — | likely benign |
| rs1430615238 | 12:113,314,504 | G/A | — | uncertain significance |
| rs202194176 | 12:113,316,959 | G/A | — | uncertain significance |
| rs886477 | 12:113,319,308 | T/A | intron variant | — |
| rs869312710 | 12:113,321,120 | C/G | — | uncertain significance |
| rs771156884 | 12:113,321,179 | G/T | — | uncertain significance |
| rs780022678 | 12:113,325,609 | G/A | — | uncertain significance |
| rs769386460 | 12:113,325,706 | T/A | — | uncertain significance |
| rs761048118 | 12:113,325,727 | C/T | — | uncertain significance |
| rs138056234 | 12:113,327,849 | C/T | — | likely benign |
| rs2043081946 | 12:113,328,654 | C/A | — | uncertain significance |
| rs2540904781 | 12:113,328,730 | G/A | — | uncertain significance |
| rs2540918154 | 12:113,333,639 | G/A | — | uncertain significance |
| rs367597186 | 12:113,334,490 | C/T | — | uncertain significance |
| rs2540920733 | 12:113,334,536 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.