RAB2A
RAB2A, member RAS oncogene family
Summary
The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4403445 | 8:61,432,007 | G/A | upstream gene variant | — |
| rs552142339 | 8:61,433,993 | A/G | — | — |
| rs13276831 | 8:61,445,098 | C/T | intron variant | — |
| rs6987084 | 8:61,447,483 | T/G | — | — |
| rs2272620 | 8:61,452,046 | A/G | — | association |
| rs7839474 | 8:61,455,861 | A/C | — | — |
| rs10110436 | 8:61,456,757 | T/G | intron variant | — |
| rs35625652 | 8:61,457,785 | A/T | — | — |
| rs200234554 | 8:61,461,350 | A/T | — | — |
| rs2875973 | 8:61,476,709 | C/T | intron variant | — |
| rs56294255 | 8:61,485,570 | C/T | intron variant | — |
| rs1803821616 | 8:61,497,331 | C/T | — | uncertain significance |
| rs12114596 | 8:61,518,399 | C/G | — | — |
| rs660865 | 8:61,531,713 | A/C | — | — |
| rs1352391334 | 8:61,533,261 | A/G | — | uncertain significance |
| rs571634003 | 8:61,533,285 | C/G | — | uncertain significance |
| rs664796 | 8:61,536,203 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.