KRABD3

Chr 7

KRAB domain containing 3

Also known as: KRBA1

NCBI Gene: 84626 ENSG00000133619 UniProt: A5PL33

KRABD3 encodes a protein predicted to regulate DNA-templated transcription. Currently, no human diseases have been definitively associated with mutations in this gene. The clinical significance of KRABD3 variants remains to be established.

ResearchSummary from RefSeq

Predicted to be involved in regulation of DNA-templated transcription. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— KRABD3

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ClinVar Variants

25 total variants — no pathogenic classifications of 25 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

25 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Benign3

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	0	0
Likely Benign	3	3
Benign	0	0
Total	3	3

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

View in ClinVar →

49 pathogenic / likely-pathogenic (of 53) ClinVar copy-number / structural variants overlap KRABD3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →