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Gene KMT2A
Variant R3864C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KMT2A R3864C lies within the SET domain of the Kmt2a protein (UniProt.org). The functional effect of R3864C is conflicting, as it demonstrates increased histone methyltransferase activity in isolation, but decreased activity in the presence of WRA complex stimulation compared to wild-type Kmt2a in in vitro assays (PMID: 28182322), and therefore, its effect on Kmt2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A R3864C

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Transcript NM_005933.4
gDNA chr11:g.118521373C>T
cDNA c.11590C>T
Protein p.R3864C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005933.4 chr11:g.118521373C>T c.11590C>T p.R3864C RefSeq GRCh38/hg38
NM_005933 chr11:g.118521373C>T c.11590C>T p.R3864C RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118521373C>T c.11590C>T p.R3864C 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