Gene Variant Detail

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Gene BRAF
Variant N581I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF N581I lies within the protein kinase domain of the Braf protein (UniProt.org). N581I results in low Braf kinase activity and Ras-dependent activation of Erk signaling in cell culture (PMID: 28783719), however, also results in increased transformation ability compared 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 N581X BRAF N581I

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Transcript NM_004333.5
gDNA chr7:g.140753393T>A
cDNA c.1742A>T
Protein p.N581I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140753393T>A c.1742A>T p.N581I RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753393T>A c.1742A>T p.N581I RefSeq GRCh38/hg38
NM_004333 chr7:g.140753393T>A c.1742A>T p.N581I RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753393T>A c.1742A>T p.N581I 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
BRAF N581I colorectal cancer predicted - sensitive Cetuximab + Irinotecan Case Reports/Case Series Actionable In a clinical case study, the combination of Erbitux (cetuximab) with Camptosar (irinotecan) as a first-line therapy resulted in stable disease with progression-free survival of 10.3 months in a patient with metastatic colorectal cancer harboring BRAF N581I (PMID: 31515458). 31515458