Gene Variant Detail

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Gene KIT
Variant K558_V559insNP
Impact List insertion
Protein Effect unknown
Gene Variant Descriptions KIT K558_V559insNP results in an insertion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 558 and 559 (PMID: 16226710). K558_V559insNP has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT K558_V559insNP

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Transcript NM_000222.3
gDNA chr4:g.54727442_54727443insAACCCT
cDNA c.1674_1675insAACCCT
Protein p.K558_V559insNP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727442_54727443insAACCCT c.1674_1675insAACCCT p.K558_V559insNP RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727442_54727443insAACCCT c.1674_1675insAACCCT p.K558_V559insNP RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727442_54727443insAACCCT c.1674_1675insAACCCT p.K558_V559insNP RefSeq GRCh38/hg38
NM_000222 chr4:g.54727442_54727443insAACCCT c.1674_1675insAACCCT p.K558_V559insNP RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727442_54727443insAACCCT c.1674_1675insAACCCT p.K558_V559insNP RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727442_54727443insAACCCT c.1674_1675insAACCCT p.K558_V559insNP 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References