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Gene | ATRX |
Variant | K1045* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX K1045* results in a premature truncation of the Atrx protein at amino acid 1045 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K1045* is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX K1045* |
Transcript | NM_000489.6 |
gDNA | chrX:g.77682123T>A |
cDNA | c.3133A>T |
Protein | p.K1045* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77682123T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77682123T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77682123T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77682123T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
XM_017029611.1 | chrX:g.77681757T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
XM_017029611 | chrX:g.77681757T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77682123T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77682123T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77682123T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
NM_138270.5 | chrX:g.77682009T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
NM_138270.3 | chrX:g.77682009T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
NM_138270 | chrX:g.77682009T>A | c.3133A>T | p.K1045* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATRX inact mut | ovarian cancer | predicted - sensitive | M1774 | Case Reports/Case Series | Actionable | In a Phase I trial (DDRiver Solid Tumours 301), a patient with ovarian cancer harboring an inactivating mutation in ATRX experienced a partial response on treatment with M1774 (Ann Oncol (2022) 33 (suppl_7): S747-S748; NCT04170153). | detail... |
ATRX inact mut | Advanced Solid Tumor | sensitive | E7449 | Preclinical | Actionable | In a preclinical study, E7449 inhibited proliferation of a ATRX-deficient cell line in culture, which demonstrated increased sensitivity compared to cells without DNA repair pathway mutations (PMID: 26513298). | 26513298 |
ATRX mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | ATRX mutations aid in the diagnosis of gliomas (NCCN.org). | detail... |