BRAF V600_K601delinsE
Gene Variant Detail

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Gene BRAF
Variant V600_K601delinsE
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF V600_K601delinsE results in the deletion of two amino acids formation of a new glutamic acid (E) residue in the protein kinase domain of the Braf protein between amino acids 600 and 601 (UniProt.org, PMID: 22563563). V600_K601delinsE leads to activation of downstream Mek and Erk signaling, increased colony formation (PMID: 17297294), and induces cell proliferation and cell viability in cell culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600_K601delinsE

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Transcript NM_004333.6
gDNA chr7:g.140753334_140753336delTCA
cDNA c.1799_1801delTGA
Protein p.V600_K601delinsE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
NM_004333 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38

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