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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_001354609.1 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_001378468.1 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_001378474.1 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
NM_004333.5 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

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 V600_K601delinsE gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor