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 is therefore predicted to confer a loss of function to the Braf protein.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF M517I

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Transcript NM_004333.5
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
NM_001354609.1 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 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

Filtering

  • 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"

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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
BRAF M517I loss of function - predicted