Gene Variant Detail

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Gene KIT
Variant D419G
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions KIT D419G lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). D419G does not result in Kit phosphorylation and is not transforming in cultured cells (PMID: 31182436), and therefore, is predicted to have no effect on Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon8 KIT D419G

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Transcript NM_000222.3
gDNA chr4:g.54723608A>G
cDNA c.1256A>G
Protein p.D419G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
XM_017008178 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
NM_000222 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
NM_001093772 chr4:g.54723608A>G c.1256A>G p.D419G RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723608A>G c.1256A>G p.D419G 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries