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Gene KMT2A
Variant S3865F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions KMT2A S3865F lies within the SET domain of the Kmt2a protein (UniProt.org). S3865F results in decreased Kmt2a histone methyltransferase activity alone or in complex with WRA complex in an in-vitro assay (PMID: 28182322), and therefore, is predicted to lead to a loss of Ktm2a protein function.
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A inact mut KMT2A S3865F

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Transcript NM_005933.4
gDNA chr11:g.118521377C>T
cDNA c.11594C>T
Protein p.S3865F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005933 chr11:g.118521377C>T c.11594C>T p.S3865F RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118521377C>T c.11594C>T p.S3865F RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118521377C>T c.11594C>T p.S3865F 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 )
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  • 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