Gene Variant Detail

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Gene BRAF
Variant M517I
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF M517I lies within the protein kinase domain of the Braf protein (UniProt.org). M517I has not been biochemically characterized, but demonstrates decreased transformation ability in cell culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF M517I

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Transcript NM_004333.6
gDNA chr7:g.140777055C>G
cDNA c.1551G>C
Protein p.M517I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047420769.1 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
NM_004333 chr7:g.140777055C>G c.1551G>C p.M517I RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777055C>G c.1551G>C p.M517I 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 Protein Effect Treatment Approaches
BRAF M517I loss of function - predicted