Gene Variant Detail

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Gene KIT
Variant V560D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V560D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 19164557). V560D confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 16954519, PMID: 20633291, PMID: 27440273) despite reduced expression, enhanced degradation, and cellular mislocalization (PMID: 27440273).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V560D

KIT mutant KIT exon11 KIT V560D

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Transcript NM_000222.3
gDNA chr4:g.54727447T>A
cDNA c.1679T>A
Protein p.V560D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727444T>A c.1679T>A p.V560D 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
KIT V560D gain of function KIT Inhibitor
KIT V560D KIT D820A
KIT V560D KIT T670I
KIT V560D KIT V654A
KIT V560D KIT D816H
KIT V560D KIT D820G KIT N822K KIT Y870*
KIT V560D KIT D579G KIT D816N