BET1L
Bet1 golgi vesicular membrane trafficking protein like
Summary
Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11245990 | 11:202,565 | C/T | downstream gene variant | — |
| rs11245994 | 11:202,779 | C/T | — | — |
| rs11602954 | 11:202,856 | G/A | downstream gene variant | — |
| rs2280543 | 11:203,788 | C/T | coding sequence variant | — |
| rs72878027 | 11:205,021 | C/T | — | — |
| rs796587757 | 11:205,316 | T/C | — | uncertain significance |
| rs751823348 | 11:205,361 | C/T | — | uncertain significance |
| rs369056456 | 11:205,409 | T/C | — | uncertain significance |
| rs182313931 | 11:205,420 | C/T | — | uncertain significance |
| rs140243895 | 11:205,976 | G/A | — | likely benign |
| rs758206802 | 11:206,000 | G/C | — | uncertain significance |
| rs144624940 | 11:206,008 | G/A | — | uncertain significance |
| rs199668338 | 11:206,034 | G/A | — | uncertain significance |
| rs7930823 | 11:206,767 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.