SEC31B

Chr 10

SEC31 homolog B, COPII component

Also known as: SEC31B-1, SEC31L2

This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.05
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.22
OE 0.83 (0.661.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.06Z-score
OE missense 0.99 (0.931.06)
618 obs / 622.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.661.05)
00.351.4
Missense OE?0.99 (0.931.06)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 50 / 60.3Missense obs/exp: 618 / 622.3Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SEC31B · 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 →