KIT V560E - Gene Variant Detail

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Gene KIT
Variant V560E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT V560E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V560E has been identified in the scientific literature (PMID: 25695690, PMID: 34250403), 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 V560E

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Transcript NM_000222.3
gDNA chr4:g.54727447_54727448delTTinsAG
cDNA c.1679_1680delTTinsAG
Protein p.V560E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54727447_54727448delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447_54727448delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447_54727448delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444_54727445delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447_54727448delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447_54727448delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727444_54727445delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727444_54727445delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444_54727445delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447_54727448delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727444_54727445delTTinsAG c.1679_1680delTTinsAG p.V560E RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727444_54727445delTTinsAG c.1679_1680delTTinsAG p.V560E 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

  • 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 V560E gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, neoadjuvant Gleevec (imatinib) treatment resulted in decreased tumor size with a maximal response at 12 months in a patient with gastrointestinal stromal tumor (GIST) harboring KIT V560E, allowing for surgical resection (PMID: 34250403). 34250403