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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* |
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 |
---|---|---|---|---|---|
XM_006724668.3 | 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_006724668 | chrX:g.77683883G>T | c.1373C>A | p.S458* | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77683883G>T | c.1373C>A | p.S458* | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77683883G>T | c.1373C>A | p.S458* | RefSeq | GRCh38/hg38 |
XM_005262154.6 | 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_138270.3 | chrX:g.77683768_77683769delCTinsAA | c.1373_1374delCTinsAA | p.S458* | RefSeq | GRCh38/hg38 |
XM_047442191.1 | 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_000489.4 | 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 |
NM_000489.6 | chrX:g.77683883G>T | c.1373C>A | p.S458* | RefSeq | GRCh38/hg38 |
NM_138270 | chrX:g.77683768_77683769delAGinsTT | c.1373_1374delCTinsAA | p.S458* | RefSeq | GRCh38/hg38 |
XM_017029604 | chrX:g.77683768_77683769delAGinsTT | c.1373_1374delCTinsAA | p.S458* | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.77683883G>T | c.1373C>A | p.S458* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATRX S458* | high grade glioma | sensitive | Adavosertib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Adavosertib (MK-1775) inhibited growth of patient-derived glioma cells harboring ATRX S458* in culture (PMID: 31551363). | 31551363 |