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Gene | ATRX |
Variant | K1001fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX K1001fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1001 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K1001fs is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX K1001fs |
Transcript | NM_000489.6 |
gDNA | chrX:g.(77682255_77682256) |
cDNA | c.(3001_3000) |
Protein | p.K1001fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.(77682255_77682256) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.(77682255_77682256) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_005262154 | chrX:g.(77682168_77682169) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_017029603.1 | chrX:g.(77682087_77682088) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_005262156.5 | chrX:g.(77682090_77682091) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.(77682255_77682256) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_017029603 | chrX:g.(77682087_77682088) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_005262156.4 | chrX:g.(77682090_77682091) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_005262154.6 | chrX:g.(77682168_77682169) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_005262156 | chrX:g.(77682090_77682091) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.(77682168_77682169) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_017029608.2 | chrX:g.(77681973_77681974) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.(77682255_77682256) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_017029608 | chrX:g.(77681973_77681974) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.(77682255_77682256) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.(77682255_77682256) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.(77682255_77682256) | c.(3001_3000) | p.K1001fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATRX K1001fs | loss of function - predicted |