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@genomenon.com

Gene MAP2K1
Variant H119Q
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 H119Q lies within the protein kinase domain of the Map2k1 protein (UniProt.org). H119Q results in increased Erk phosphorylation in cultured cells (PMID: 32641410), 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 H119Q

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.66436811T>A
cDNA c.357T>A
Protein p.H119Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436811T>A c.357T>A p.H119Q RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436811T>A c.357T>A p.H119Q RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436811T>A c.357T>A p.H119Q RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436811T>A c.357T>A p.H119Q RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436811T>A c.357T>A p.H119Q RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436811T>A c.357T>A p.H119Q 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 H119Q Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation in transformed cells expressing MAP2K1 H119Q in culture (PMID: 32641410). 32641410
MAP2K1 H119Q Advanced Solid Tumor predicted - sensitive SCH772984 Preclinical - Biochemical Actionable In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 H119Q in culture (PMID: 32641410). 32641410