KIT N505I
Gene Variant Detail

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Gene KIT
Variant N505I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT N505I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). N505I results in constitutive phosphorylation of Kit, activation of downstream Akt and Erk, and is transforming in cell culture (PMID: 24317392).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT N505I

KIT mutant KIT exon9 KIT N505I

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Transcript NM_000222.3
gDNA chr4:g.54726024A>T
cDNA c.1514A>T
Protein p.N505I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_000222 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726024A>T c.1514A>T p.N505I 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