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Gene KMT2A
Variant R2379*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions KMT2A R2379* results in a premature truncation of the Kmt2a protein at amino acid 2379 of 3969 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R2379* is predicted to lead to a loss of Kmt2a protein function.
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A inact mut KMT2A R2379*

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Transcript NM_005933.4
gDNA chr11:g.118503036C>T
cDNA c.7135C>T
Protein p.R2379*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005933.4 chr11:g.118503036C>T c.7135C>T p.R2379* RefSeq GRCh38/hg38
NM_001197104.2 chr11:g.118503027_118503028delAGinsTA c.7135_7136delAGinsTA p.R2379* RefSeq GRCh38/hg38
NM_001197104 chr11:g.118503027_118503028delAGinsTA c.7135_7136delAGinsTA p.R2379* RefSeq GRCh38/hg38
NM_001197104.1 chr11:g.118503027_118503028delAGinsTA c.7135_7136delAGinsTA p.R2379* RefSeq GRCh38/hg38
NM_005933 chr11:g.118503036C>T c.7135C>T p.R2379* RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118503036C>T c.7135C>T p.R2379* 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

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