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Gene | MAP2K1 |
Variant | S222D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 S222D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S222D results in constitutive activation of Map2k1 when combined with S218D or S226D in culture (PMID: 7936666, PMID: 12506122), but has not been individually characterized and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 S222D |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481850_66481851delTCinsGA |
cDNA | c.664_665delTCinsGA |
Protein | p.S222D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66481850_66481851delTCinsGA | c.664_665delTCinsGA | p.S222D | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66485026_66485028delTCAinsGAC | c.664_666delTCAinsGAC | p.S222D | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66485026_66485028delTCAinsGAC | c.664_666delTCAinsGAC | p.S222D | RefSeq | GRCh38/hg38 |
XM_011521783 | chr15:g.66485026_66485028delTCAinsGAC | c.664_666delTCAinsGAC | p.S222D | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66485038_66485039delAGinsGA | c.664_665delAGinsGA | p.S222D | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66485038_66485039delAGinsGA | c.664_665delAGinsGA | p.S222D | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66481850_66481851delTCinsGA | c.664_665delTCinsGA | p.S222D | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66481850_66481851delTCinsGA | c.664_665delTCinsGA | p.S222D | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66485038_66485039delAGinsGA | c.664_665delAGinsGA | p.S222D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 S222D | unknown | |
BRAF V600E MAP2K1 S218D MAP2K1 S222D | ||
CTNNB1 del exon3-4 MAP2K1 S218D MAP2K1 S222D | ||
CTNNB1 mut MAP2K1 S218D MAP2K1 S222D |