VTI1A
vesicle transport through interaction with t-SNAREs 1A
Summary
The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1169292996 | 10:114,224,342 | C/T | — | uncertain significance |
| rs368328557 | 10:114,224,405 | G/A | — | uncertain significance |
| rs12241008 | 10:114,280,702 | T/C | regulatory region variant | — |
| rs2494197092 | 10:114,286,889 | T/C | — | uncertain significance |
| rs7076446 | 10:114,384,314 | A/T | regulatory region variant | — |
| rs17267338 | 10:114,388,272 | A/G | intron variant | — |
| rs375862922 | 10:114,427,991 | G/A | — | uncertain significance |
| rs755885630 | 10:114,428,700 | G/A | — | uncertain significance |
| rs2133836443 | 10:114,428,729 | T/C | — | uncertain significance |
| rs775302321 | 10:114,428,749 | G/A | — | uncertain significance |
| rs7907361 | 10:114,468,137 | G/C | intron variant | — |
| rs7342028 | 10:114,479,262 | G/T | intron variant | — |
| rs1886601 | 10:114,490,159 | G/T | intron variant | — |
| rs2419812 | 10:114,492,835 | G/T | regulatory region variant | — |
| rs7086803 | 10:114,498,476 | G/A | intron variant | — |
| rs11196085 | 10:114,505,037 | T/G | — | — |
| rs147585669 | 10:114,535,122 | A/G | regulatory region variant | — |
| rs941827 | 10:114,558,887 | T/A | — | — |
| rs540416829 | 10:114,568,400 | A/G | — | — |
| rs1384690182 | 10:114,575,062 | C/T | — | uncertain significance |
| rs377156614 | 10:114,575,096 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.