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Gene KMT2A
Variant V2178A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KMT2A V2178A does not lie within any known functional domains of the Kmt2a protein (UniProt.org). V2178A has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A V2178A

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Transcript NM_005933.4
gDNA chr11:g.118502434T>C
cDNA c.6533T>C
Protein p.V2178A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005933.4 chr11:g.118502434T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
XM_011542829 chr11:g.118501786T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
XM_011542833.2 chr11:g.118504843T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
XM_011542833 chr11:g.118504843T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
XM_011542833.3 chr11:g.118504843T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
XM_011542829.2 chr11:g.118501786T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
XM_011542829.3 chr11:g.118501786T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118502434T>C c.6533T>C p.V2178A RefSeq GRCh38/hg38
NM_005933 chr11:g.118502434T>C c.6533T>C p.V2178A 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