H3-7
Chr 1H3.7 histone (putative)
Also known as: H3-2, H3.7, HIST2H3PS2, p06
Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is a member of the H3 family, but is found outside of the histone cluster. There is evidence that it is transcribed and has an intact CDS, but residue changes in the protein suggest that it may be on its way to becoming a psuedogene. [provided by RefSeq, Aug 2019]
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
11 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 0 | 0 | 0 | 0 |
Likely Benign | 0 | 0 | 0 | 2 | 2 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 0 | 9 | 2 | 11 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
H3-7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
3 OMIM entries
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
No open access results found
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools