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Gene | ATRX |
Variant | G1071R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX G1071R does not lie within any known functional domains of the Atrx protein (UniProt.org). G1071R has been identified in the scientific literature (PMID: 30709382, PMID: 30404791, PMID: 27150160), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX G1071R |
Transcript | NM_000489.6 |
gDNA | chrX:g.77682045C>T |
cDNA | c.3211G>A |
Protein | p.G1071R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006724668.4 | chrX:g.77682045C>T | c.3211G>A | p.G1071R | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77682045C>T | c.3211G>A | p.G1071R | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77682045C>T | c.3211G>A | p.G1071R | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77682045C>T | c.3211G>A | p.G1071R | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77682045C>T | c.3211G>A | p.G1071R | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77682045C>T | c.3211G>A | p.G1071R | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77682045C>T | c.3211G>A | p.G1071R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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