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 | R2197C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX R2197C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2197C has been identified in sequencing studies (PMID: 25257301, PMID: 33056981, PMID: 36541551), 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 R2197C |
Transcript | NM_000489.6 |
gDNA | chrX:g.77557561G>A |
cDNA | c.6589C>T |
Protein | p.R2197C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005262154 | chrX:g.77557472_77557474delCCTinsACA | c.6589_6591delAGGinsTGT | p.R2197C | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77557561G>A | c.6589C>T | p.R2197C | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77557561G>A | c.6589C>T | p.R2197C | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.77557472_77557474delAGGinsTGT | c.6589_6591delAGGinsTGT | p.R2197C | RefSeq | GRCh38/hg38 |
XM_005262154.6 | chrX:g.77557472_77557474delAGGinsTGT | c.6589_6591delAGGinsTGT | p.R2197C | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77557561G>A | c.6589C>T | p.R2197C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|