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Gene | MAP2K1 |
Variant | I9Sfs*3 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MAP2K1 I9Sfs*3 indicates a shift in the reading frame starting at amino acid 9 and terminating 3 residues downstream causing a premature truncation of the 393 amino acid Map2k1 protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), I9Sfs*3 is predicted to lead to a loss of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 inact mut MAP2K1 I9Sfs*3 |
Transcript | NM_002755.4 |
gDNA | chr15:g.66387372delA |
cDNA | c.25delA |
Protein | p.I9Sfs*3 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66387371delC | c.24delC | p.I9Sfs*3 | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66387371delC | c.24delC | p.I9Sfs*3 | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66387372delA | c.25delA | p.I9Sfs*3 | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66387372delA | c.25delA | p.I9Sfs*3 | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66387372delA | c.25delA | p.I9Sfs*3 | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66387372delA | c.25delA | p.I9Sfs*3 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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