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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

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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
XM_011521783.3 chr15:g.66485026_66485028delTCAinsGAC c.664_666delTCAinsGAC p.S222D RefSeq GRCh38/hg38
NM_002755 chr15:g.66481850_66481851delTCinsGA c.664_665delTCinsGA p.S222D RefSeq GRCh38/hg38
XM_017022411 chr15:g.66485038_66485039delAGinsGA c.664_665delAGinsGA p.S222D RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66485038_66485039delAGinsGA c.664_665delAGinsGA p.S222D RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66481850_66481851delTCinsGA c.664_665delTCinsGA p.S222D RefSeq GRCh38/hg38
NM_002755.3 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 chr15:g.66485026_66485028delTCAinsGAC c.664_666delTCAinsGAC p.S222D RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66485038_66485039delAGinsGA c.664_665delAGinsGA p.S222D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References