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KIT A502_Y503dup - Gene Variant Detail

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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

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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_001093772.2 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_017008180.1 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_000222.3 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_017008178.1 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_001385285.1 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
XM_017008178 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries