Gene Variant Detail

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Gene BRAF
Variant L597R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597R lies within the protein kinase domain of the Braf protein (UniProt.org). L597R results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288, PMID: 26343582), is associated with Erk activation in a patient tumor sample (PMID: 23715574), and in one of two cell lines, increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L597R

BRAF mutant BRAF L597X BRAF L597R

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Transcript NM_004333.6
gDNA chr7:g.140753345A>C
cDNA c.1790T>G
Protein p.L597R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333_140749334delTTinsAG c.1789_1790delTTinsAG p.L597R RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333_140749334delTTinsAG c.1789_1790delTTinsAG p.L597R RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38
NM_004333 chr7:g.140753345A>C c.1790T>G p.L597R RefSeq GRCh38/hg38

Filtering

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  • 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 L597R gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor