H2BK1

Chr 7

H2B.K variant histone 1

Also known as: H2BE1

NCBI Gene: 114483833ENSG00000285480UniProt: A0A2R8Y619

Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Predicted to be located in chromosome and nucleus. Predicted to be part of nucleosome. [provided by Alliance of Genome Resources, Jul 2025]

34
ClinVar variants
33
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— H2BK1
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 1 VUS of 34 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

34 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic30
Likely Pathogenic3
VUS1
30
Pathogenic
3
Likely Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————30
Likely Pathogenic
————3
VUS
————1
Likely Benign
————0
Benign
————0
Total—34

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

H2BK1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for H2BK1

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools