Gene Variant Detail

Gene KIT
Variant D816F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816F lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). D816F results in constitutive phosphorylation of Kit and activation of Stat3, Mapk, and Akt signaling in cultured cells (PMID: 9990072, PMID: 16397263), and also confers resistance to imatinib in culture (PMID: 16397263).
Associated Drug Resistance Y

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Transcript NM_000222
gDNA chr4:g.54733154_54733155delGAinsTT
cDNA c.2446_2447delGAinsTT
Protein p.D816F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F 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 Protein Effect Treatment Approaches
KIT D816F gain of function KIT Inhibitor Avapritinib
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D816F Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816F were resistant to Gleevec (imatinib mesylate) in culture (PMID: 16397263). 16397263