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_004333.5
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
XM_005250045 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_004333 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753334_140753336delTCA c.1799_1801delTGA p.V600_K601delinsE RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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