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Gene | MAP2K1 |
Variant | G128V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 G128V lies within the protein kinase domain of the Map2k1 protein (UniProt.org). G128V results in autophosphorylation levels similar to wild-type Map2k1 in an in vitro assay (PMID: 29753091) and has been described as a drug resistance mutation (PMID: 24265153), but leads to increased Erk phosphorylation, enhanced cell cycle progression, increased colony formation, and elevated autophagy induction compared to wild-type Map2k1 in culture (PMID: 31972311), and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 G128V |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436837G>T |
cDNA | c.383G>T |
Protein | p.G128V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022412 | chr15:g.66444666G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436837G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436837G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436837G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436837G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436837G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66444666G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436837G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66444666G>T | c.383G>T | p.G128V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 G128V | unknown | |
BRAF V600E MAP2K1 G128V |