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Gene KIT
Variant V555I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT V555I lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V555I has been identified in the scientific literature (PMID: 30851333, PMID: 32944848, PMID: 35642348), 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 V555I

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Transcript NM_000222.3
gDNA chr4:g.54727431G>A
cDNA c.1663G>A
Protein p.V555I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54727443G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727443G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727431G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727431G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_000222 chr4:g.54727431G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727431G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727443G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727443G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727431G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727443G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727431G>A c.1663G>A p.V555I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727443G>A c.1663G>A p.V555I 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