DRC9

Chr 3

dynein regulatory complex subunit 9

Also known as: CFAP122, IQCG

NCBI Gene: 84223 ENSG00000114473 UniProt: Q9H095 OMIM: 612477

Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical Summary— DRC9

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ClinVar Variants

13 unique Pathogenic / Likely Pathogenic· 83 VUS of 186 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

186 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8

Likely Pathogenic5

VUS83

Likely Benign56

Benign8

Conflicting4

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	5	1	2	0	8
Likely Pathogenic	2	2	1	0	5
VUS	2	65	14	2	83
Likely Benign	0	7	26	23	56
Benign	0	1	6	1	8
Conflicting	—				4
Total	9	76	49	26	164

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

View in ClinVar →

30 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap DRC9 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →