Gene Variant Detail

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Gene KIT
Variant V559K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT V559K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V559K has been identified in sequencing studies (PMID: 20861712), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT V559X KIT V559K

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Transcript NM_000222.3
gDNA chr4:g.54727443_54727445delGTTinsAAG
cDNA c.1675_1677delGTTinsAAG
Protein p.V559K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727443_54727445delGTTinsAAG c.1675_1677delGTTinsAAG p.V559K RefSeq GRCh38/hg38
NM_000222 chr4:g.54727443_54727445delGTTinsAAG c.1675_1677delGTTinsAAG p.V559K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727443_54727445delGTTinsAAG c.1675_1677delGTTinsAAG p.V559K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727443_54727445delGTTinsAAG c.1675_1677delGTTinsAAG p.V559K RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727443_54727445delGTTinsAAG c.1675_1677delGTTinsAAG p.V559K RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727443_54727445delGTTinsAAG c.1675_1677delGTTinsAAG p.V559K RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References