H2AL3
Chr XH2A.L variant histone 3
Also known as: H2A.L.3, H2AL1RP
The protein is a core component of nucleosomes that wraps and compacts DNA into chromatin, playing a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Based on the provided information, no disease associations or inheritance patterns have been established for mutations in this gene. Additional clinical and genetic data would be needed to determine the pathogenic potential of variants in H2AL3.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
H2AL3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools