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Gene | ATRX |
Variant | D774fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX D774fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 774 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), D774fs is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX D774fs |
Transcript | NM_000489.6 |
gDNA | chrX:g.(77682936_77682937) |
cDNA | c.(2320_2319) |
Protein | p.D774fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047442191.1 | chrX:g.(77682936_77682937) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.(77682936_77682937) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.(77682936_77682937) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_005262153.6 | chrX:g.(77682933_77682934) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.(77682936_77682937) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_017029611.1 | chrX:g.(77682570_77682571) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_005262153.5 | chrX:g.(77682933_77682934) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_005262153 | chrX:g.(77682933_77682934) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_017029607.2 | chrX:g.(77682702_77682703) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.(77682936_77682937) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.(77682936_77682937) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.(77682936_77682937) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_017029607 | chrX:g.(77682702_77682703) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
XM_017029611 | chrX:g.(77682570_77682571) | c.(2320_2319) | p.D774fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 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 mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | ATRX mutations aid in the diagnosis of gliomas (NCCN.org). | detail... |