Gene Variant Detail

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Gene KIT
Variant E228*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT E228* results in a premature truncation of the Kit protein at amino acid 228 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E228* is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT E228*

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Transcript NM_000222.3
gDNA chr4:g.54699692G>T
cDNA c.682G>T
Protein p.E228*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265742 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_017008178 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_005265740 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001093772 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_005265741 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_017008180 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_000222 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38
XM_017008179 chr4:g.54699692G>T c.682G>T p.E228* RefSeq GRCh38/hg38

Filtering

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  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References