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Gene KIT
Variant P875L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT P875L (corresponds to P874L in the canonical isoform) lies within the protein kinase domain of the Kit protein (UniProt.org). P875L results in similar levels of autophosphorylation but decreased transformation relative to wild-type in culture (PMID: 30926633), and therefore, its effect on Kit protein function is unknown.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT P875L

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Transcript NM_001385284.1
gDNA chr4:g.54736745C>T
cDNA c.2624C>T
Protein p.P875L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265740.1 chr4:g.54736745C>T c.2624C>T p.P875L RefSeq GRCh38/hg38
XM_005265740 chr4:g.54736745C>T c.2624C>T p.P875L RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54736745C>T c.2624C>T p.P875L 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References