KIT Y553C
Gene Variant Detail

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Gene KIT
Variant Y553C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y553C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553C is predicted to lead to a gain of Kit protein function as a corresponding mouse variant (Y552C) results in IL3-independent growth in cultured cells (PMID: 22083669).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT Y553C

KIT mutant KIT exon11 KIT Y553C

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Transcript NM_000222.3
gDNA chr4:g.54727426A>G
cDNA c.1658A>G
Protein p.Y553C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727426A>G c.1658A>G p.Y553C RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727426A>G c.1658A>G p.Y553C RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727426A>G c.1658A>G p.Y553C RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727426A>G c.1658A>G p.Y553C RefSeq GRCh38/hg38
NM_000222 chr4:g.54727426A>G c.1658A>G p.Y553C RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727426A>G c.1658A>G p.Y553C 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

  • 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
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Molecular Profile Protein Effect Treatment Approaches
KIT Y553C gain of function - predicted