WASHC4
Chr 12ARWASH complex subunit 4
Also known as: KIAA1033, MRT43, SWIP
The protein acts as a component of the WASH core complex that recruits and activates the Arp2/3 complex to induce actin polymerization at endosome surfaces, playing a key role in endosome sorting and tubule fission during intracellular transport. Mutations cause autosomal recessive intellectual developmental disorder. The gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
271 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 2 | 7 | 0 | 10 |
Likely Pathogenic | 9 | 1 | 1 | 0 | 11 |
VUS | 5 | 152 | 8 | 2 | 167 |
Likely Benign | 0 | 4 | 9 | 25 | 38 |
Benign | 0 | 3 | 1 | 6 | 10 |
Conflicting | — | 9 | |||
| Total | 15 | 162 | 26 | 33 | 245 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WASHC4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools