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Gene KMT2A
Variant E1472*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions KMT2A E1472* results in a premature truncation of the Kmt2a protein at amino acid 1472 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1472* is predicted to lead to a loss of Kmt2a protein function.
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A inact mut KMT2A E1472*

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Transcript NM_005933.4
gDNA chr11:g.118488695G>T
cDNA c.4414G>T
Protein p.E1472*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001197104 chr11:g.118488695G>T c.4414G>T p.E1472* RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118488695G>T c.4414G>T p.E1472* RefSeq GRCh38/hg38
NM_005933 chr11:g.118488695G>T c.4414G>T p.E1472* RefSeq GRCh38/hg38
NM_001197104.2 chr11:g.118488695G>T c.4414G>T p.E1472* RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118488695G>T c.4414G>T p.E1472* RefSeq GRCh38/hg38
NM_001197104.1 chr11:g.118488695G>T c.4414G>T p.E1472* RefSeq GRCh38/hg38

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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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References