SNX31

Chr 8

sorting nexin 31

NCBI Gene: 169166ENSG00000174226UniProt: Q8N9S9OMIM: 619839

Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in endocytic recycling and intracellular protein transport. Predicted to be part of protein-containing complex. Predicted to be active in early endosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.15
OE 0.77 (0.56–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.06Z-score
OE missense 0.99 (0.89–1.10)
234 obs / 236.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.56–1.09)
0≤0.351.4
Missense OE?0.99 (0.89–1.10)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 23 / 29.7Missense obs/exp: 234 / 236.4Syn Z: -0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SNX31 · 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