Gene Variant Detail

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Gene BRAF
Variant A598_T599insV
Impact List insertion
Protein Effect gain of function
Gene Variant Descriptions BRAF A598_T599insV results in the insertion of a valine (V) in the protein kinase domain of the Braf protein between amino acids 598 and 599 (UniProt.org). A598_T599insV results in increased Braf kinase activity, increased downstream Mapk and Mek signaling, and the ability to transform cells in culture (PMID: 16501605).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF A598_T599insV

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Transcript NM_004333.6
gDNA chr7:g.140753340_140753341insTAC
cDNA c.1794_1795insGTA
Protein p.A598_T599insV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_004333 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV 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 A598_T599insV gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor
EML4 - ALK BRAF A598_T599insV