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Gene | MAP2K1 |
Variant | H119P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 H119P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). H119P has been described as a drug resistance mutation (PMID: 19915144), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 H119P |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436810A>C |
cDNA | c.356A>C |
Protein | p.H119P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66436810A>C | c.356A>C | p.H119P | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436810A>C | c.356A>C | p.H119P | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436810A>C | c.356A>C | p.H119P | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436810A>C | c.356A>C | p.H119P | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436810A>C | c.356A>C | p.H119P | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436810A>C | c.356A>C | p.H119P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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