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Gene | ATRX |
Variant | D2352Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX D2352Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2352Y has been identified in sequencing studies (PMID: 27147599), 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 D2352Y |
Transcript | NM_000489.6 |
gDNA | chrX:g.77521420C>A |
cDNA | c.7054G>T |
Protein | p.D2352Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489 | chrX:g.77521420C>A | c.7054G>T | p.D2352Y | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77521420C>A | c.7054G>T | p.D2352Y | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77521420C>A | c.7054G>T | p.D2352Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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