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Gene | ATRX |
Variant | A394Vfs*2 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX A394Vfs*2 indicates a shift in the reading frame starting at amino acid 394 and terminating 2 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), A394Vfs*2 is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX A394Vfs*2 |
Transcript | NM_000489.6 |
gDNA | chrX:g.77684074_77684075delAG |
cDNA | c.1181_1182delCT |
Protein | p.A394Vfs*2 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005262154.5 | chrX:g.77684074_77684075delAG | c.1181_1182delCT | p.A394Vfs*2 | RefSeq | GRCh38/hg38 |
XM_005262154.6 | chrX:g.77684074_77684075delAG | c.1181_1182delCT | p.A394Vfs*2 | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77684074_77684075delAG | c.1181_1182delCT | p.A394Vfs*2 | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77684074_77684075delAG | c.1181_1182delCT | p.A394Vfs*2 | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77684074_77684075delAG | c.1181_1182delCT | p.A394Vfs*2 | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77684074_77684075delAG | c.1181_1182delCT | p.A394Vfs*2 | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77684074_77684075delAG | c.1181_1182delCT | p.A394Vfs*2 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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