KIT V560del - Gene Variant Detail

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Gene KIT
Variant V560del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT V560del (also reported as V559del) results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 560 (PMID: 12879016). V560del confers a gain of function to Kit, resulting in constitutive, ligand independent phosphorylation of Kit and activation of Akt in cell culture (PMID: 15236194, PMID: 22282465), and transformation of cultured cells (PMID: 19861435).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT V560del

KIT mutant KIT exon11 KIT exon 11 del KIT V560del

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Transcript NM_000222.3
gDNA chr4:g.54727447_54727449delTTG
cDNA c.1679_1681delTTG
Protein p.V560delV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.2 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV 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 Protein Effect Treatment Approaches
KIT V560del gain of function KIT Inhibitor
KIT V560del KIT over exp
KIT V560del KIT V654A
CD274 pos KIT V560del
KIT V560del KIT N822K
KIT K558N KIT V560del