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Gene KIT
Variant K509R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT K509R lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). K509R has been identified in sequencing studies (PMID: 27214377), 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 exon9 KIT K509R

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Transcript NM_000222.3
gDNA chr4:g.54726036A>G
cDNA c.1526A>G
Protein p.K509R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_000222 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726036A>G c.1526A>G p.K509R RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726036A>G c.1526A>G p.K509R 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 )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References