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Gene | MAP2K1 |
Variant | G61_D65del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 G61_D65del results in the deletion of five amino acids in the Map2k1 protein from amino acids 61 to 65 (UniProt.org). G61_D65del confers a gain of function to Map2k1 as demonstrated by increased proliferation in a competition assay and increased transformation activity in cultured cells (PMID: 36442478). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 G61_D65del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435128_66435142del15 |
cDNA | c.182_196del15 |
Protein | p.G61_D65delGELKD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |