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DRC8

Chr 1

dynein regulatory complex subunit 8

Also known as: CFAP200, EFCAB2

NCBI Gene: 84288 UniProt: Q5VUJ9 OMIM: 619617

The protein is a component of the nexin-dynein regulatory complex that maintains alignment and integrity of the distal axoneme and regulates microtubule sliding in motile cilia and flagella. Mutations cause primary ciliary dyskinesia, affecting the respiratory system, fertility, and laterality determination. The condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]

OMIM ResearchGenerating clinical summary…

Clinical Summary— DRC8

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ClinVar Variants

6 VUS of 29 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DRC8?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

29 submitted variants in ClinVar

ClinVar

Classification Summary

VUS6

Likely Benign1

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	6	0	6
Likely Benign	1	0	1
Benign	0	1	1
Total	7	1	8

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

View in ClinVar →

41 pathogenic / likely-pathogenic (of 49) ClinVar copy-number / structural variants overlap DRC8 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →