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Gene KIT
Variant V559fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT V559fs results in a change in the amino acid sequence of the Kit protein beginning at aa 559 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), V559fs is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT V559fs

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Transcript NM_000222.3
gDNA chr4:g.(54727442_54727443)
cDNA c.(1675_1674)
Protein p.V559fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.(54727442_54727443) c.(1675_1674) p.V559fs RefSeq GRCh38/hg38
NM_000222 chr4:g.(54727442_54727443) c.(1675_1674) p.V559fs RefSeq GRCh38/hg38
XM_017008178 chr4:g.(54727442_54727443) c.(1675_1674) p.V559fs RefSeq GRCh38/hg38
NM_000222.3 chr4:g.(54727442_54727443) c.(1675_1674) p.V559fs RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.(54727442_54727443) c.(1675_1674) p.V559fs RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.(54727442_54727443) c.(1675_1674) p.V559fs 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.

Molecular Profile Protein Effect Treatment Approaches
KIT V559fs loss of function - predicted