Gene Variant Detail

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Gene MAP2K1
Variant K57C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 K57C lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57C has not been biochemically characterized, however, results in restored pathway activation in the presence of an upstream pathway inhibitor (PMID: 24463458), 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 K57C

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Transcript NM_002755.4
gDNA chr15:g.66435115_66435117delAAGinsTGT
cDNA c.169_171delAAGinsTGT
Protein p.K57C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.4 chr15:g.66435115_66435117delAAGinsTGT c.169_171delAAGinsTGT p.K57C RefSeq GRCh38/hg38
NM_002755 chr15:g.66435115_66435117delAAGinsTGT c.169_171delAAGinsTGT p.K57C RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435115_66435117delAAGinsTGT c.169_171delAAGinsTGT p.K57C RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435115_66435117delAAGinsTGT c.169_171delAAGinsTGT p.K57C RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435115_66435117delAAGinsTGT c.169_171delAAGinsTGT p.K57C RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435115_66435117delAAGinsTGT c.169_171delAAGinsTGT p.K57C RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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