BET1

Chr 7AR

Bet1 golgi vesicular membrane trafficking protein

Also known as: HBET1, MDRP

This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Muscular dystrophy, congenital, with rapid progressionMIM #254100
AR
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.60
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.60LOEUF
pLI 0.004
Z-score 0.57
OE 0.74 (0.361.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.92 (0.731.16)
52 obs / 56.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.361.60)
00.351.4
Missense OE?0.92 (0.731.16)
00.61.4
Synonymous OE?0.53
01.21.6
LoF obs/exp: 4 / 5.4Missense obs/exp: 52 / 56.6Syn Z: 1.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BET1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →