SMIM1

Chr 1

small integral membrane protein 1 (Vel blood group)

Also known as: Vel

NCBI Gene: 388588ENSG00000235169UniProt: B2RUZ4

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.82
LOEUF
Multiple*
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?
1.82LOEUF
pLI 0.033
Z-score 0.29
OE 0.80 (0.31–1.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.83Z-score
OE missense 0.66 (0.49–0.89)
31 obs / 46.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.80 (0.31–1.82)
0≤0.351.4
Missense OE?0.66 (0.49–0.89)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 2 / 2.5Missense obs/exp: 31 / 46.9Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMIM1 · 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