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Gene KIT
Variant K558delinsNP
Impact List indel
Protein Effect unknown
Gene Variant Descriptions KIT K558delinsNP results in a deletion of lysine (K) at amino acid 558 within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of an asparagine (N) and a proline (P) at the same location (PMID: 16226710). K558delinsNP has been identified in the scientific literature (PMID: 11526490, PMID: 25239608, PMID: 20651400), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT K558delinsNP

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Transcript NM_000222.3
gDNA chr4:g.54727440_54727442delinsAACCCT
cDNA c.1672_1674delinsAACCCT
Protein p.K558_558delinsNP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727440_54727442delinsAACCCT c.1672_1674delinsAACCCT p.K558_558delinsNP RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727440_54727442delinsAACCCT c.1672_1674delinsAACCCT p.K558_558delinsNP RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727440_54727442delinsAACCCT c.1672_1674delinsAACCCT p.K558_558delinsNP RefSeq GRCh38/hg38
NM_000222 chr4:g.54727440_54727442delinsAACCCT c.1672_1674delinsAACCCT p.K558_558delinsNP RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727440_54727442delinsAACCCT c.1672_1674delinsAACCCT p.K558_558delinsNP RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727440_54727442delinsAACCCT c.1672_1674delinsAACCCT p.K558_558delinsNP 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 Protein Effect Treatment Approaches
KIT K558delinsNP unknown KIT Inhibitor