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 I103N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 I103N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I103N confers a gain of function to the Map2k1 protein as demonstrated by elevated basal kinase activity in an in vitro assay (PMID: 12370306) and increased Map2k1 autophosphorylation in cell culture (PMID: 29753091), and is also associated with resistance to Mek inhibitors (PMID: 12370306, PMID: 19915144).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I103N

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "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_002755.3
gDNA chr15:g.66436762T>A
cDNA c.308T>A
Protein p.I103N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "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 I103N Advanced Solid Tumor decreased response CI-1040 Preclinical - Biochemical Actionable In a preclinical study, MAP2K1 I103N demonstrated decreased sensitivity to CI-1040 (PD184352) in an in vitro kinase assay (PMID: 12370306). 12370306