ATRX S458*
Gene Variant Detail

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Gene ATRX
Variant S458*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATRX S458* results in a premature truncation of the Atrx protein at amino acid 458 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S458* is predicted to lead to a loss of Atrx protein function.
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX inact mut ATRX S458*

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Transcript NM_000489.6
gDNA chrX:g.77683883G>T
cDNA c.1373C>A
Protein p.S458*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000489 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
XM_017029604 chrX:g.77683768_77683769delAGinsTT c.1373_1374delCTinsAA p.S458* RefSeq GRCh38/hg38
NM_138270.3 chrX:g.77683768_77683769delCTinsAA c.1373_1374delCTinsAA p.S458* RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
NM_138270.5 chrX:g.77683768_77683769delCTinsAA c.1373_1374delCTinsAA p.S458* RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
XM_017029604.3 chrX:g.77683768_77683769delCTinsAA c.1373_1374delCTinsAA p.S458* RefSeq GRCh38/hg38
XM_005262154.6 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
XM_006724668 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
XM_005262154 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
XM_005262154.5 chrX:g.77683883G>T c.1373C>A p.S458* RefSeq GRCh38/hg38
XM_017029604.2 chrX:g.77683768_77683769delCTinsAA c.1373_1374delCTinsAA p.S458* RefSeq GRCh38/hg38
NM_138270 chrX:g.77683768_77683769delAGinsTT c.1373_1374delCTinsAA p.S458* RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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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...