Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | ATRX |
Variant | H865Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX H865Q does not lie within any known functional domains of the Atrx protein (UniProt.org). H865Q has been identified in sequencing studies (PMID: 30668521, PMID: 25589003, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX H865Q |
Transcript | NM_000489.6 |
gDNA | chrX:g.77682661G>T |
cDNA | c.2595C>A |
Protein | p.H865Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489 | chrX:g.77682661G>T | c.2595C>A | p.H865Q | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77682661G>T | c.2595C>A | p.H865Q | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77682661G>T | c.2595C>A | p.H865Q | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77682661G>T | c.2595C>A | p.H865Q | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77682661G>T | c.2595C>A | p.H865Q | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77682661G>T | c.2595C>A | p.H865Q | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77682661G>T | c.2595C>A | p.H865Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATRX H865Q | unknown |