SH3TC1

Chr 4

SH3 domain and tetratricopeptide repeats 1

NCBI Gene: 54436ENSG00000125089UniProt: Q8TE82

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.28LOEUF
pLI 0.000
Z-score -0.09
OE 1.01 (0.81–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.15Z-score
OE missense 1.21 (1.15–1.28)
982 obs / 809.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.81–1.28)
0≤0.351.4
Missense OE?1.21 (1.15–1.28)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 52 / 51.3Missense obs/exp: 982 / 809.8Syn Z: -2.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SH3TC1 · 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