Gene Variant Detail

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Gene KIT
Variant C443Y
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT C443Y lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). C443Y results in constitutive ligand-independent activation of Kit in cell culture (PMID: 19865100), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT C443Y

KIT mutant KIT exon8 KIT C443Y

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Transcript NM_000222.3
gDNA chr4:g.54723680G>A
cDNA c.1328G>A
Protein p.C443Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.1 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
NM_001093772 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
NM_000222 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
XM_017008178 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723680G>A c.1328G>A p.C443Y RefSeq GRCh38/hg38

Filtering

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  • 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