Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene MAP2K1
Variant V60E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 V60E does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60E confers a gain of function to Map2k1 as demonstrated by increased Erk signaling (PMID: 28263969), transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and tumor formation in orthotopic mouse models (PMID: 28263969), and demonstrates resistance to some Braf inhibitors (PMID: 24265153, PMID: 28263969, PMID: 36442478).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 V60E

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_002755.4
gDNA chr15:g.66435125T>A
cDNA c.179T>A
Protein p.V60E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022412.1 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 V60E melanoma resistant Trametinib Preclinical Actionable In a preclinical study, a melanoma cell line expressing MAP2K1 V60E demonstrated resistance to Mekinist (trametinib) in culture (PMID: 24265153). 24265153
MAP2K1 V60E melanoma resistant Dabrafenib Preclinical Actionable In a preclinical study, a melanoma cell line expressing MAP2K1 V60E demonstrated resistance to Tafinlar (dabrafenib) in culture (PMID: 24265153). 24265153
MAP2K1 V60E Advanced Solid Tumor sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation in transformed cells expressing MAP2K1 V60E in culture (PMID: 32641410). 32641410
MAP2K1 V60E Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 V60E in culture (PMID: 36442478). 36442478