Gene Variant Detail

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Gene KIT
Variant S645_L647dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT S645_L647dup (also referred to as L647_G648insSYL) indicates the insertion of three duplicate amino acids, serine (S)-645 through leucine (L)-647, in the protein kinase domain of the Kit protein (UniProt.org). S645_L647dup is associated with resistance to KIT inhibitors (PMID: 38408285), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon13 KIT S645_L647dup

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Transcript NM_000222
gDNA chr4:g.54728072_54728073insAGCTATCTT
cDNA c.1941_1942insAGCTATCTT
Protein p.S645_L647dup
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54728072_54728073insAGCTATCTT c.1941_1942insAGCTATCTT p.S645_L647dup 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 S645_L647dup unknown
KIT P551_E554delinsQ KIT S645_L647dup KIT D820Y