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KRABD3

Chr 7

KRAB domain containing 3

Also known as: KRBA1

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
Clinical SummaryKRABD3
📋
ClinVar Variants
49 unique Pathogenic / Likely Pathogenic· 1 VUS of 78 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/KRABD3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

78 submitted variants in ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic2
VUS1
Likely Benign3
47
Pathogenic
2
Likely Pathogenic
1
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
47
Likely Pathogenic
2
VUS
1
Likely Benign
3
Benign
0
Total53

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KRABD3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →

No publications found for KRABD3