Gene Variant Detail

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Gene KIT
Variant V559G
Impact List missense
Protein Effect unknown
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), but has not been fully biochemically characterized and therefore, its effect on Kit protein function is unknown.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT V559X KIT V559G

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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_001385285.1 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
NM_000222 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_000222.2 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

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
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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 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 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 Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937). 35194937