BRAF G464E - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

BRAF G464E

(BRAF Gly464Glu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (31 hits -- see all)
  • AutoGenomics INFINITI BRAF
    The INFINITIĀ® BRAF Assay is designed to identify BRAF genetic mutations. ... Codon 464: G464E, G464V. Codon 466: G466A, G466E, G466V. Codon 569: ...
    www.autogenomics.com/1/cancer_BRAF.php
  • MoKCa
    Home :: List of genes :: Mutations of BRAF :: G464E. BRAF G464E. Mutation type. Missense. Domain. pfam_A: Pkinase residues 457 to 714. Prevalence ...
    strubiol.icr.ac.uk/extra/mokca/aggregate.php?...
  • Catalogue of Somatic Mutations in Cancer
    Mutations of the BRAF gene in human cancer. Davies H, Bignell GR, Cox ... p.G464E. Hx62-26. KRAS. p.G12D. Hx94. KRAS. p.Q61H. HxLL. BRAF. p.V600E. KG-1-C ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&pmid=12068308
  • Mutation Analysis of BRAF, MEK1 and MEK2 in 15 Ovarian Cancer ...
    Mutation Analysis of BRAF, MEK1 and MEK2 in 15 Ovarian Cancer Cell ... Hey contained a nt 1391 GA transition resulting in an exon 11 missense mutation, p.G464E (Figure 1C) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2093994
  • Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer ...
    BRAF mutations were identified in four of the fifteen ovarian cancer cell lines studied. ... in exon 15 and Hey contained an exon 11 missense mutation, p.G464E. ...
    www.ncbi.nlm.nih.gov/pubmed/18060073
  • share.gene.com
    ... BRAF D587A BRAF D587E BRAF D594E BRAF D594G BRAF D594K BRAF D594V BRAF E586E BRAF E586K BRAF F468C BRAF F583F BRAF F595L BRAF F595S BRAF G464E ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • PLoS ONE: Mutation Analysis of BRAF, MEK1 and MEK2 in 15 ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... 1391 GA transition resulting in an exon 11 missense mutation, p.G464E (Figure 1C) ...
    plosone.org/article/info:doi/10.1371/journal.pone.0001279
  • Catalogue of Somatic Mutations in Cancer
    BRAF. p.G464E. c.1391G>A. Confirmed somatic variant. Unknown. 724836. KRAS ... Mutations of the BRAF gene in human cancer. Davies H, Bignell GR, Cox ...
    sanger.ac.uk/perl/genetics/CGP/...?action=sample&id=724836
  • MoKCa
    Mutations of BRAF. B-Raf proto-oncogene serine/threonine-protein kinase - Homo sapiens ... Project COSMIC entry for BRAF. SwissProt/UNIPROT primary accession ...
    strubiol.icr.ac.uk/extra/mokca/mut_by_prot.php?protein_q=44
  • journal pone 0001279
    BRAF mutations were identified in four of the fifteen ovarian cancer cell lines studied. ... In this study, we report novel BRAF mutations in exon 4 and exon 12 ...
    www.scribd.com/doc/1924247/journal-pone-0001279

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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