Gene Variant Detail

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Gene KIT
Variant P838S
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions KIT P838S lies within the protein kinase domain of the Kit protein (UniProt.org). P838S results in activation of JAK/STAT and NFkappaB signaling similar to wild-type Kit in an in vitro assay (PMID: 29464843), and therefore, is predicted to have no effect on Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon18 KIT P838S

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Transcript NM_000222.3
gDNA chr4:g.54736525C>T
cDNA c.2512C>T
Protein p.P838S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54736525C>T c.2512C>T p.P838S RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54736525C>T c.2512C>T p.P838S RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54736525C>T c.2512C>T p.P838S RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54736525C>T c.2512C>T p.P838S 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

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