Gene Variant Detail

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Gene BRAF
Variant V600Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF V600Q (previously reported as V599Q) lies within the activation segment of the protein kinase domain of the Braf protein (PMID: 15035987). V600Q has been identified in the scientific literature (PMID: 28848703), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V600X BRAF V600Q

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Transcript NM_004333.6
gDNA chr7:g.140753336_140753337delGTinsCA
cDNA c.1798_1799delGTinsCA
Protein p.V600Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753336_140753337delGTinsCA c.1798_1799delGTinsCA p.V600Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753336_140753337delGTinsCA c.1798_1799delGTinsCA p.V600Q RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753336_140753337delGTinsCA c.1798_1799delGTinsCA p.V600Q RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336_140753337delACinsTG c.1798_1799delGTinsCA p.V600Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140753336_140753337delACinsTG c.1798_1799delGTinsCA p.V600Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753336_140753337delGTinsCA c.1798_1799delGTinsCA p.V600Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753336_140753337delGTinsCA c.1798_1799delGTinsCA p.V600Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753336_140753337delGTinsCA c.1798_1799delGTinsCA p.V600Q 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 Protein Effect Treatment Approaches
BRAF V600Q unknown BRAF Inhibitor MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor RAF Inhibitor (Pan)