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Gene | MAP2K1 |
Variant | K97M |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MAP2K1 K97M lies within the protein kinase domain of the Map2k1 protein (UniProt.org). K97M is referred to as a kinase dead variant and does not result in phosphorylation of Erk1/2 and therefore, confers a loss of function to the Map2k1 protein (PMID: 15342384). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 inact mut MAP2K1 K97M |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435236A>T |
cDNA | c.290A>T |
Protein | p.K97M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66435236A>T | c.290A>T | p.K97M | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435236A>T | c.290A>T | p.K97M | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435236A>T | c.290A>T | p.K97M | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435236A>T | c.290A>T | p.K97M | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435236A>T | c.290A>T | p.K97M | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435236A>T | c.290A>T | p.K97M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 K97M | loss of function |