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Gene | KIT |
Variant | A502_Y503dup |
Impact List | duplication |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT A502_Y503dup (also referred to as Y503_F504insAY) indicates the insertion of 2 duplicate amino acids, alanine (A)-502 through tyrosine (Y)-503, in the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). A502_Y503dup results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 15790786, PMID: 19865100). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT A502_Y503dup KIT mutant KIT exon9 KIT exon 9 ins KIT A502_Y503dup |
Transcript | NM_000222.3 |
gDNA | chr4:g.54726014_54726019 |
cDNA | c.1504_1509 |
Protein | p.A502_Y503 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385285.1 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54726014_54726019 | c.1504_1509 | p.A502_Y503 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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