TWF1

Chr 12

twinfilin actin binding protein 1

ENSG00000151239UniProt: Q12792

Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity)

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
0.85LOEUF
pLI 0.000
Z-score 2.07
OE 0.52 (0.32–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.92Z-score
OE missense 0.81 (0.71–0.93)
147 obs / 181.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.32–0.85)
0≤0.351.4
Missense OE?0.81 (0.71–0.93)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 11 / 21.3Missense obs/exp: 147 / 181.9Syn Z: 0.78

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

TWF1 · 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