Gene Variant Detail

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Gene BRAF
Variant M53I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF M53I does not lie within any known functional domains of the Braf protein (UniProt.org). M53I results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Nov 2022).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF M53I

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Transcript NM_004333.5
gDNA chr7:g.140850192C>G
cDNA c.159G>C
Protein p.M53I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017012559.1 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_005250045 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_017012559 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_004333 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_017012558 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140850192C>G c.159G>C p.M53I RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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