Gene Variant Detail

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Gene KIT
Variant I571_D579dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT I571_D579dup (also referred to as D579_H580insIDPTQLPYD) indicates the insertion of nine duplicate amino acids, isoleucine (I)-571 through aspartic acid (D)-579, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). I571_D579dup has been identified in sequencing studies (PMID: 19768731, PMID: 23291969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT I571_D579dup

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Transcript NM_000222.3
gDNA chr4:g.54727479_54727505
cDNA c.1711_1737
Protein p.I571_D579
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727479_54727505 c.1711_1737 p.I571_D579 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727479_54727505 c.1711_1737 p.I571_D579 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727479_54727505 c.1711_1737 p.I571_D579 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727479_54727505 c.1711_1737 p.I571_D579 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727479_54727505 c.1711_1737 p.I571_D579 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727479_54727505 c.1711_1737 p.I571_D579 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
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Molecular Profile Protein Effect Treatment Approaches
KIT I571_D579dup unknown