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Gene | ATRX |
Variant | R1302Lfs*43 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX R1302Lfs*43 indicates a shift in the reading frame starting at amino acid 1302 and terminating 43 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of helicase domains (UniProt.org), R1302Lfs*43 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 R1302Lfs*43 |
Transcript | NM_000489.6 |
gDNA | chrX:g.77664683_77664686delCTTT |
cDNA | c.3904_3907delAGAA |
Protein | p.R1302Lfs*43 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017029602 | chrX:g.(77656619_77663478) | c.(3904_4035) | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77664683_77664686delCTTT | c.3904_3907delAGAA | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_017029604.2 | chrX:g.(77654179_77663397) | c.(3904_4035) | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77664683_77664686delCTTT | c.3904_3907delAGAA | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77664683_77664686delCTTT | c.3904_3907delAGAA | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77664683_77664686delCTTT | c.3904_3907delAGAA | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77664683_77664686delCTTT | c.3904_3907delAGAA | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77664683_77664686delCTTT | c.3904_3907delAGAA | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_017029604 | chrX:g.(77654179_77663397) | c.(3904_4035) | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77664683_77664686delCTTT | c.3904_3907delAGAA | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_017029602.1 | chrX:g.(77656619_77663478) | c.(3904_4035) | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
XM_017029604.3 | chrX:g.(77654179_77663397) | c.(3904_4035) | p.R1302Lfs*43 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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