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DRC4
Chr 16ARdynein regulatory complex subunit 4
Also known as: CILD33, GAS11, GAS8
The DRC4 protein is a component of the nexin-dynein regulatory complex that regulates ciliary and flagellar motility and maintains axonemal integrity in both motile and primary cilia. Mutations cause primary ciliary dyskinesia, a condition affecting respiratory cilia function and other ciliated organs. Inheritance is autosomal recessive.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DRC4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
270 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 | 7 | 0 | 29 | 0 | 36 |
Likely Pathogenic | 4 | 0 | 5 | 0 | 9 |
VUS | 0 | 63 | 18 | 1 | 82 |
Likely Benign | 0 | 5 | 51 | 40 | 96 |
Benign | 0 | 4 | 25 | 4 | 33 |
Conflicting | — | 3 | |||
| Total | 11 | 72 | 128 | 45 | 259 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DRC4 · 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