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Gene KMT2A
Variant R1532C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KMT2A R1532C lies within PHD-type zinc finger domain 2 of the Kmt2a protein (UniProt.org). R1532C has been identified in sequencing studies (PMID: 30181556), 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 R1532C

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Transcript NM_005933.4
gDNA chr11:g.118490147C>T
cDNA c.4594C>T
Protein p.R1532C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001197104 chr11:g.118490147C>T c.4594C>T p.R1532C RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118490147C>T c.4594C>T p.R1532C RefSeq GRCh38/hg38
NM_001197104.2 chr11:g.118490147C>T c.4594C>T p.R1532C RefSeq GRCh38/hg38
NM_005933 chr11:g.118490147C>T c.4594C>T p.R1532C RefSeq GRCh38/hg38
NM_001197104.1 chr11:g.118490147C>T c.4594C>T p.R1532C RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118490147C>T c.4594C>T p.R1532C 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References