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Gene | MAP2K1 |
Variant | V60M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 V60M does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60M confers a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation relative to wild-type Map2k1 (PMID: 26566875). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 V60M |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435124G>A |
cDNA | c.178G>A |
Protein | p.V60M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |