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Gene | MAP2K1 |
Variant | D67Y |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 D67Y does not lie within any known functional domains of the Map2k1 protein (UniProt.org). D67Y results in proliferation similar to wild-type Map2k1 in a competition assay but increased transformation activity in cultured cells (PMID: 36442478), and therefore, is predicted to lead to a gain of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 D67Y |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435145G>T |
cDNA | c.199G>T |
Protein | p.D67Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.3 | chr15:g.66435145G>T | c.199G>T | p.D67Y | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435145G>T | c.199G>T | p.D67Y | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435145G>T | c.199G>T | p.D67Y | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435145G>T | c.199G>T | p.D67Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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