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Gene KIT
Variant V643A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT V643A lies within the protein kinase domain of the Kit protein (UniProt.org). V643A has been identified in sequencing studies (PMID: 19617878), 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 exon13 KIT V643A

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Transcript NM_000222.3
gDNA chr4:g.54728059T>C
cDNA c.1928T>C
Protein p.V643A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54728059T>C c.1928T>C p.V643A RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54728059T>C c.1928T>C p.V643A RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728059T>C c.1928T>C p.V643A RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54728059T>C c.1928T>C p.V643A RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728059T>C c.1928T>C p.V643A RefSeq GRCh38/hg38
NM_000222 chr4:g.54728059T>C c.1928T>C p.V643A RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References