Gene Variant Detail

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Gene BRAF
Variant R558Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF R558Q lies within the protein kinase domain of the Braf protein (UniProt.org). R558Q results in moderate activation of Erk pathway signaling in a dimer and Ras-dependent manner in culture (PMID: 31515458), 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 R558Q

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Transcript NM_004333.6
gDNA chr7:g.140776933C>T
cDNA c.1673G>A
Protein p.R558Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140776933C>T c.1673G>A p.R558Q RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140776933C>T c.1673G>A p.R558Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140776933C>T c.1673G>A p.R558Q RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140776933C>T c.1673G>A p.R558Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140776933C>T c.1673G>A p.R558Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140776933C>T c.1673G>A p.R558Q RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140776933C>T c.1673G>A p.R558Q RefSeq GRCh38/hg38

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  • 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
BRAF R558Q colorectal cancer not predictive Cetuximab + Irinotecan Case Reports/Case Series Actionable In a clinical study, the combination of Erbitux (cetuximab) with Camptosar (irinotecan) as a fourth-line therapy resulted in a complete response with progression-free survival of 37.7 months in a patient with metastatic colorectal cancer harboring BRAF R558Q (PMID: 31515458). 31515458