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Gene ATRX
Variant R1426*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATRX R1426* results in a premature truncation of the Atrx protein at amino acid 1426 of 2492 (UniProt.org). Due to the loss of helicase domains (UniProt.org), R1426* is predicted to lead to a loss of Atrx protein function.
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX inact mut ATRX R1426*

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Transcript NM_000489.6
gDNA chrX:g.77654139G>A
cDNA c.4276C>T
Protein p.R1426*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005262156 chrX:g.77652229_77652230delCGinsTA c.4276_4277delCGinsTA p.R1426* RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77654139G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77654139G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_005262156.5 chrX:g.77652229_77652230delCGinsTA c.4276_4277delCGinsTA p.R1426* RefSeq GRCh38/hg38
XM_017029607 chrX:g.77652161G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
NM_000489 chrX:g.77654139G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_017029606.2 chrX:g.77652164T>A c.4276A>T p.R1426* RefSeq GRCh38/hg38
XM_017029607.2 chrX:g.77652161G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_006724668 chrX:g.77654139G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77654139G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_005262153 chrX:g.77654134_77654136delACGinsTCA c.4276_4278delCGTinsTGA p.R1426* RefSeq GRCh38/hg38
XM_005262153.5 chrX:g.77654134_77654136delCGTinsTGA c.4276_4278delCGTinsTGA p.R1426* RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77654139G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77654139G>A c.4276C>T p.R1426* RefSeq GRCh38/hg38
XM_005262156.4 chrX:g.77652229_77652230delCGinsTA c.4276_4277delCGinsTA p.R1426* RefSeq GRCh38/hg38
XM_005262153.6 chrX:g.77654134_77654136delCGTinsTGA c.4276_4278delCGTinsTGA p.R1426* RefSeq GRCh38/hg38
XM_017029606 chrX:g.77652164T>A c.4276A>T p.R1426* RefSeq GRCh38/hg38

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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...