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Gene | ATRX |
Variant | R1302Kfs*7 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX R1302Kfs*7 indicates a shift in the reading frame starting at amino acid 1302 and terminating 7 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of helicase domains (UniProt.org), R1302Kfs*7 is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX R1302fs ATRX R1302Kfs*7 |
Transcript | NM_000489.6 |
gDNA | chrX:g.77664690dupT |
cDNA | c.3904dupA |
Protein | p.R1302Kfs*7 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017029604 | chrX:g.77663396_77663397insCT | c.3904_3905insAG | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_017029602.1 | chrX:g.77663478_77663479insTTTGGGTT | c.3903_3904insAACCCAAA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77664688_77664689insC | c.3899_3900insG | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77664690dupT | c.3904dupA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77664688_77664689insC | c.3899_3900insG | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77664690dupT | c.3904dupA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77664690dupT | c.3904dupA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_017029604.3 | chrX:g.77663397_77663398insTT | c.3904_3905insAA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77664690dupT | c.3904dupA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_017029604.2 | chrX:g.77663397_77663398insTT | c.3904_3905insAA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77664690dupT | c.3904dupA | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
XM_017029602 | chrX:g.77663479_77663480insGTGGGTTC | c.3903_3904insAACCCACG | p.R1302Kfs*7 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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