Gene Variant Detail

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Gene BRAF
Variant T599_V600insETT
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF T599_V600insETT results in the insertion of 3 amino acids in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). BRAF T599_V600insETT has not been characterized however, other insertions between T599 and V600 are activating (PMID: 16501605, PMID: 17297294, PMID: 21190184), and therefore, T599_V600insETT is predicted to lead to a gain of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF T599_V600insETT

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Transcript NM_004333.6
gDNA chr7:g.140753340_140753341insTGTCTCTGT
cDNA c.1798_1799insAGACAACAG
Protein p.T599_V600insETT
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38
NM_004333 chr7:g.140753340_140753341insTGTCTCTGT c.1798_1799insAGACAACAG p.T599_V600insETT RefSeq GRCh38/hg38

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