KIT V559G
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 V559G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V559G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V559G results in constitutive phosphorylation of Kit in a patient sample (PMID: 15897563), and the corresponding mouse variant results in ligand-independent Kit phosphorylation and increased proliferation in cultured cells and increased tumor formation in mouse models (PMID: 8546206).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V559G

KIT mutant KIT exon11 KIT V559X KIT V559G

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.54727444T>G
cDNA c.1676T>G
Protein p.V559G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727444T>G c.1676T>G p.V559G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727444T>G c.1676T>G p.V559G RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727444T>G c.1676T>G p.V559G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727444T>G c.1676T>G p.V559G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727444T>G c.1676T>G p.V559G RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727444T>G c.1676T>G p.V559G 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 V559G Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559G in culture (PMID: 31205508). 31205508
KIT V559G Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937). 35194937
KIT V559G Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937). 35194937
KIT V559G Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937). 35194937