CLVS2

Chr 6

clavesin 2

Also known as: C6orf212, C6orf213, RLBP1L2, bA160A10.4

NCBI Gene: 134829ENSG00000146352UniProt: Q5SYC1

This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.014
Z-score 1.91
OE 0.41 (0.21–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.80Z-score
OE missense 0.63 (0.54–0.73)
116 obs / 184.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.21–0.86)
0≤0.351.4
Missense OE?0.63 (0.54–0.73)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 5 / 12.2Missense obs/exp: 116 / 184.9Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CLVS2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients