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Gene | ATRX |
Variant | R907Dfs*63 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX R907Dfs*63 indicates a shift in the reading frame starting at amino acid 907 and terminating 63 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R907Dfs*63 is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX R907Dfs*63 |
Transcript | NM_000489.6 |
gDNA | chrX:g.77682537delG |
cDNA | c.2719delC |
Protein | p.R907Dfs*63 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017029601.2 | chrX:g.(77682256_77682447) | c.(2719_2910) | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77682537delG | c.2719delC | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
XM_017029601 | chrX:g.(77682256_77682447) | c.(2719_2910) | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77682537delG | c.2719delC | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77682537delG | c.2719delC | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77682538delA | c.2718delT | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
XM_017029601.3 | chrX:g.(77682256_77682447) | c.(2719_2910) | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77682537delG | c.2719delC | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77682538delA | c.2718delT | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77682537delG | c.2719delC | p.R907Dfs*63 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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