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Gene KMT2A
Variant R3841W
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KMT2A R3841W lies within the SET domain of the Kmt2a protein (UniProt.org). R3841W results in increased histone methyltransferase activity in isolation, and further stimulation is not achieved by WRA complex formation in vitro (PMID: 28182322), and therefore, is predicted to lead to a gain of Kmt2a protein function.
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A act mut KMT2A R3841W

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Transcript NM_005933.4
gDNA chr11:g.118521304C>T
cDNA c.11521C>T
Protein p.R3841W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542831 chr11:g.118520803A>T c.11521A>T p.R3841W RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118521304C>T c.11521C>T p.R3841W RefSeq GRCh38/hg38
XM_011542831.2 chr11:g.118520803A>T c.11521A>T p.R3841W RefSeq GRCh38/hg38
NM_005933 chr11:g.118521304C>T c.11521C>T p.R3841W RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118521304C>T c.11521C>T p.R3841W RefSeq GRCh38/hg38
NM_001412597.1 chr11:g.118520803A>T c.11521A>T p.R3841W 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