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Gene KMT2A
Variant S534L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KMT2A S534L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S534L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A S534L

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Transcript NM_005933.4
gDNA chr11:g.118472760C>T
cDNA c.1601C>T
Protein p.S534L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005933 chr11:g.118472760C>T c.1601C>T p.S534L RefSeq GRCh38/hg38
NM_001197104.2 chr11:g.118472760C>T c.1601C>T p.S534L RefSeq GRCh38/hg38
NM_001197104.1 chr11:g.118472760C>T c.1601C>T p.S534L RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118472760C>T c.1601C>T p.S534L RefSeq GRCh38/hg38
NM_001197104 chr11:g.118472760C>T c.1601C>T p.S534L RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118472760C>T c.1601C>T p.S534L 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.
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References