Gene Variant Detail

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

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Transcript NM_000222
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
NM_000222 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
NM_001093772 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 N505I gain of function KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT N505I melanoma sensitive Sorafenib Preclinical Actionable In a preclinical study, KIT N505I induced phosphorylation of KIT, ERK, and AKT, and was inhibited by Nexavar (sorafenib) in cell culture of melanocytes, demonstrating sensitivity of N505I to sorafenib (PMID: 24317392). 24317392
KIT N505I melanoma predicted - sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) decreased phosphorylation of KIT, AKT, and ERK in melanocytes expressing KIT N505I in culture (PMID: 24317392). 24317392