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Gene MAP2K1
Variant P124S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 P124S lies within the protein kinase domain of the Map2k1 protein (UniProt.org). The functional effect of P124S is conflicting, as it has been reported to confer a gain of function on the Map2k1 protein as demonstrated by increased ERK1/2 phosphorylation, but has similar induction of cell proliferation and viability levels as wild-type Map2k1 (PMID: 29533785), and confers resistance to Mek and Braf inhibitors in melanoma cells (PMID: 19915144, PMID: 22197931).
Associated Drug Resistance Y

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Transcript NM_002755.3
gDNA chr15:g.66436824C>T
cDNA c.370C>T
Protein p.P124S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66436824C>T c.370C>T p.P124S RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436824C>T c.370C>T p.P124S RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436824C>T c.370C>T p.P124S RefSeq GRCh38/hg38
NM_002755 chr15:g.66436824C>T c.370C>T p.P124S RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E MAP2K1 P124S melanoma resistant Trametinib Preclinical Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 P124S demonstrated resistance to treatment with Mekinist (trametinib) in culture (PMID: 24265153). 24265153
BRAF V600E MAP2K1 P124S melanoma resistant Dabrafenib Preclinical Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 P124S demonstrated resistance to treatment with Tafinlar (dabrafenib) in culture (PMID: 24265153). 24265153
BRAF V600E MAP2K1 P124S melanoma sensitive VRT11E Preclinical Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 P124S demonstrated sensitivity to treatment with VRT11E, resulting in decreased cell growth in culture (PMID: 24265153). 24265153
BRAF V600E MAP2K1 P124S melanoma decreased response Selumetinib Preclinical Actionable In a preclinical study, melanoma cells harboring BRAF V600E and MAP2K1 P124S demonstrated decreased sensitivity to Selumetinib (AZD6244) compared to cells harboring BRAF V600E alone in culture (PMID: 22197931). 22197931
ETV6 - NTRK3 MAP2K1 P124S pancreatic cancer predicted - resistant LOXO-195 Case Reports/Case Series Actionable In a clinical case study, a secondary resistance mutation, MAP2K1 P124S, was identified via cell-free DNA testing after a patient with pancreatic cancer harboring ETV6-NTRK3 progressed on LOXO-195 treatment (PMID: 31406350). 31406350
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 P124S unknown
BRAF V600E MAP2K1 P124S
ETV6 - NTRK3 MAP2K1 P124S