Gene Variant Detail

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Gene KIT
Variant N822K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT N822K lies within the activation loop in the protein kinase domain of the Kit protein (PMID: 24205792). N822K results in constitutive activation of Kit, increased Erk1/2 and Stat3 phosphorylation, is transforming in culture (PMID: 24205792, PMID: 31484543), leads to mislocalization of Kit to endolysosomes (PMID: 31484543), and has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT N822K

KIT mutant KIT exon17 KIT N822K

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Transcript NM_000222.3
gDNA chr4:g.54733174T>G
cDNA c.2466T>G
Protein p.N822K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733174T>G c.2466T>G p.N822K 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 Protein Effect Treatment Approaches
KIT N822K gain of function KIT Inhibitor Avapritinib
KIT W557_K558del KIT N822K
KIT V559D KIT N822K
KIT A502_Y503dup KIT N822K
KIT W557_K558delinsCE KIT N822K
KIT V569_L576del KIT V654A KIT N822K
KIT K642E KIT N822K
KIT exon 11 del KIT N822K
KIT D820G KIT N822K
KIT V560D KIT D820G KIT N822K KIT Y870*
KIT V560del KIT N822K
KIT V555_D572del KIT N822K
KIT V559_T574del KIT N822K
KIT exon 11 del KIT V654A KIT N822K
KIT A502_Y503dup KIT T574_P577del KIT V654A KIT N822K