KIT N822I
Gene Variant Detail

Request Content

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 KIT
Variant N822I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT N822I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). N822I results in constitutive Kit phosphorylation, is transforming in cell culture, and confers resistance to imatinib (PMID: 21689725).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT N822I

KIT mutant KIT exon17 KIT N822I

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_000222.3
gDNA chr4:g.54733173A>T
cDNA c.2465A>T
Protein p.N822I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
NM_000222 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733173A>T c.2465A>T p.N822I 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
KIT N822I Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822I demonstrated resistance to Gleevec (imatinib) in culture (PMID: 21689725). 21689725
KIT N822I Advanced Solid Tumor sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis of transformed cells expressing KIT N822I in culture (PMID: 21689725). 21689725