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_004333.6
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
NM_004333.6 chr7:g.140753393T>A c.1742A>T p.N581I RefSeq GRCh38/hg38
NM_001378474.1 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
XM_005250045 chr7:g.140753393T>A c.1742A>T p.N581I RefSeq GRCh38/hg38
NM_001354609.2 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_001378468.1 chr7:g.140753393T>A c.1742A>T p.N581I RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF N581I colorectal cancer not predictive Cetuximab + Irinotecan Case Reports/Case Series Actionable In a clinical 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
BRAF N581I neuroendocrine carcinoma predicted - sensitive Cobimetinib + Vemurafenib Case Reports/Case Series Actionable In a Phase II trial (TAPUR), Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy resulted in a partial response in a patient with neuroendocrine carcinoma harboring BRAF N581I (PMID: 38096472; NCT02693535). 38096472