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Gene | ATRX |
Variant | D1615G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX D1615G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). D1615G 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 D1615G |
Transcript | NM_000489.6 |
gDNA | chrX:g.77633678T>C |
cDNA | c.4844A>G |
Protein | p.D1615G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489 | chrX:g.77633678T>C | c.4844A>G | p.D1615G | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77633678T>C | c.4844A>G | p.D1615G | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77633678T>C | c.4844A>G | p.D1615G | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77633678T>C | c.4844A>G | p.D1615G | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77633678T>C | c.4844A>G | p.D1615G | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77633678T>C | c.4844A>G | p.D1615G | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77633678T>C | c.4844A>G | p.D1615G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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