KIT S501_A502insSAY
Gene Variant Detail

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Gene KIT
Variant S501_A502insSAY
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT S501_A502insSAY results in an insertion of three amino acids in the Ig-like C2-type 5 domain (exon 9) of the Kit protein between amino acids 501 and 502 (UniProt.org). S501_A502insSAY has not been characterized, however similar Kit exon 9 mutations are activating (PMID: 22324351), 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 S501_A502insSAY

KIT mutant KIT exon9 KIT exon 9 ins KIT S501_A502insSAY

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Transcript NM_000222.3
gDNA chr4:g.54726013_54726014insAGCGCATAT
cDNA c.1503_1504insAGCGCATAT
Protein p.S501_A502insSAY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References