Gene Variant Detail

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Gene KIT
Variant S476I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT S476I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). S476I confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 19865100, PMID: 30094412).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT S476I

KIT mutant KIT exon9 KIT S476I

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Transcript NM_000222.3
gDNA chr4:g.54725937G>T
cDNA c.1427G>T
Protein p.S476I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_000222 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
XM_017008180 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT S476I mast-cell leukemia predicted - sensitive Midostaurin Preclinical - Patient cell culture Actionable In a preclinical study, treatment with Rydapt (midostaurin) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843). 25209843
KIT S476I mast-cell leukemia predicted - sensitive Nilotinib Preclinical - Patient cell culture Actionable In a preclinical study, treatment with Tasigna (nilotinib) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843). 25209843