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Gene KIT
Variant S501_A502dup
Impact List duplication
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT S501_A502dup (also referred to as A502_Y503insSA) indicates the insertion of two duplicate amino acids, serine (S)-501 through alanine (A)-502, in Ig-like C2-type domain 5 of the Kit protein (UniProt.org). S501_A502dup results in constitutive phosphorylation of Kit in primary and cultured cells (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_A502dup

KIT mutant KIT exon9 KIT exon 9 ins KIT S501_A502dup

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Transcript NM_000222.3
gDNA chr4:g.54726011_54726016
cDNA c.1501_1506
Protein p.S501_A502
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.1 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502 RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726016_54726017insAGCGCA c.1506_1507insAGCGCA p.S501_A502dup RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502dup RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726016_54726017insAGCGCA c.1506_1507insAGCGCA p.S501_A502dup RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502dup RefSeq GRCh38/hg38
NM_000222 chr4:g.54726016_54726017insAGCGCA c.1506_1507insAGCGCA p.S501_A502dup RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726016_54726017insAGCGCA c.1506_1507insAGCGCA p.S501_A502dup RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502dup RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726011_54726016 c.1501_1506 p.S501_A502 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries