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Gene | ATRX |
Variant | R781* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX R781* results in a premature truncation of the Atrx protein at amino acid 781 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R781* is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX R781* |
Transcript | NM_000489.6 |
gDNA | chrX:g.77682915G>A |
cDNA | c.2341C>T |
Protein | p.R781* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006724668.4 | chrX:g.77682915G>A | c.2341C>T | p.R781* | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77682915G>A | c.2341C>T | p.R781* | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77682915G>A | c.2341C>T | p.R781* | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77682915G>A | c.2341C>T | p.R781* | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77682915G>A | c.2341C>T | p.R781* | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77682915G>A | c.2341C>T | p.R781* | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77682915G>A | c.2341C>T | p.R781* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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