Gene Variant Detail

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Gene BRAF
Variant V590I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF V590I lies within the protein kinase domain of the Braf protein (UniProt.org). V590I results in reduced Mek1/2 and Erk1/2 phosphorylation (PMID: 20824047), but similar cell proliferation and viability levels to wild-type Braf in culture (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V590I

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Transcript NM_004333.5
gDNA chr7:g.140753367C>T
cDNA c.1768G>A
Protein p.V590I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753367C>T c.1768G>A p.V590I RefSeq GRCh38/hg38
NM_004333 chr7:g.140753367C>T c.1768G>A p.V590I RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753367C>T c.1768G>A p.V590I RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753367C>T c.1768G>A p.V590I RefSeq GRCh38/hg38

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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 )
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  • 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