Gene Variant Detail

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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 is predicted to confer a loss of function to the Ktm2a protein, as demonstrated by decreased Kmt2a histone methyltransferase alone or in complex with WRA complex in in-vitro assays (PMID: 28182322).
Associated Drug Resistance

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Transcript NM_005933
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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
KMT2A S3865F loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References