BRAF V600dup
Gene Variant Detail

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Gene BRAF
Variant V600dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions BRAF V600dup (also referred to as T599_V600insV) indicates the insertion of the duplicate amino acid, valine (V)-600, in the protein kinase domain of the Braf protein (UniProt.org). V600dup confers a gain of function to the Braf protein as demonstrated by increased kinase activity and phosphorylation of downstream Mek and Erk, and is transforming in cell culture (PMID: 21190184).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600dup

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Transcript NM_004333.6
gDNA chr7:g.140753335_140753337
cDNA c.1798_1800
Protein p.V600
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753334_140753335insTAC c.1800_1801insGTA p.V600dup RefSeq GRCh38/hg38

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