STON1

Chr 2

stonin 1

Also known as: SALF, SBLF, STNB1

NCBI Gene: 11037ENSG00000243244UniProt: Q9Y6Q2

The STON1 protein is involved in endocytosis, the process by which cells internalize proteins from their surface through specialized molecular machinery at the plasma membrane. This gene is not highly constrained against loss-of-function variants based on population genetics data. Currently, no established Mendelian diseases have been definitively linked to STON1 mutations in clinical practice.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
11
P/LP submissions
0%
P/LP missense
1.12
LOEUF
—
Mechanism
Clinical Summary— STON1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 21 VUS of 38 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.12LOEUF
pLI 0.000
Z-score 1.08
OE 0.77 (0.54–1.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-2.51Z-score
OE missense 1.37 (1.27–1.48)
491 obs / 357.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.77 (0.54–1.12)
0≤0.351.4
Missense OE1.37 (1.27–1.48)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 20 / 25.9Missense obs/exp: 491 / 357.5Syn Z: -1.13

ClinVar Variant Classifications

38 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS21
Likely Benign2
Benign2
10
Pathogenic
1
Likely Pathogenic
21
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
14
7
0
21
Likely Benign
0
0
2
0
2
Benign
0
1
1
0
2
Total01521036

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

STON1 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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