BRAF G469E - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

BRAF G469E

(BRAF Gly469Glu)


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 (51 hits -- see all)
  • CRAF inhibition induces apoptosis in melanoma cells with non ...
    Two of these (G469E and D594G) are low-activity BRAF mutants and these cell lines are ... and G469E BRAF mutations (Figure 2a). The two cell lines with the BRAF V600E mutation ...
    www.wistar.org/herlyn/Pub PDFs/2008/Smalley2008-3.pdf
  • CRAF inhibition induces apoptosis in melanoma cells with non ...
    Studies have shown low-activity mutants of BRAF (G469E/D594G) instead signal through CRAF. Unlike BRAF, CRAF directly regulates apoptosis through ...
    www.ncbi.nlm.nih.gov/pubmed/18794803
  • Oncogene - Abstract of article: CRAF inhibition induces ...
    These G469E- and D594G-mutated melanomas were found to exhibit constitutive levels of ... low-activity mutants of BRAF (G469E/D594G) instead signal through ...
    www.nature.com/onc/journal/v28/n1/abs/onc2008362a.html
  • AutoGenomics INFINITI BRAF
    The INFINITIĀ® BRAF Assay is designed to identify BRAF genetic mutations. ... Codon 569: G469A, G469E. Codon 597: L597R, L597V. Codon 601: K601E. 25-50ng DNA/reaction ...
    www.autogenomics.com/1/cancer_BRAF.php
  • MoKCa
    ... genes :: Mutations of BRAF :: G469E. BRAF G469E. Mutation type. Missense ... G469E is moderately activating as the buly residue interferes with G-loop/ATP ...
    strubiol.icr.ac.uk/extra/mokca/aggregate.php?...
  • [Stability in drinking and surface water of nine virus ...
    BRAF* melanomas appear to be associated with a specific profile of DNA copy number ... low-activity mutants of BRAF (G469E/D594G) instead signal through ...
    lib.bioinfo.pl/pmid:14460
  • Cancer Genome Project Data
    BRAF. p.V600E. E14146. BRAF. p.V600E. E14147. BRAF. p.V600E. E14148. BRAF ... p.G469E. E14166. BRAF. p.F595L. E14166. KRAS. p.G12V. E14167. BRAF. p.V600E. E14168. BRAF. p.V600E ...
    sanger.ac.uk/perl/genetics/CGP/...?action=study&study_id=19
  • share.gene.com
    ... BRAF F468C BRAF F583F BRAF F595L BRAF F595S BRAF G464E BRAF G464R BRAF G464V BRAF G466A BRAF G466E BRAF G466R BRAF G466V BRAF G469A BRAF G469E ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • 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
  • Cracking the system: melanoma complexity demands new ...
    BRAF. mutations (K601E, G469E and D594G) which are. sensitive to the CRAF inhibitor sora ... mas with low-activity BRAF mutations. are sensitive to sorafenib ...
    www.wistar.org/Herlyn/Pub PDFs/2008/Vultur_PCMR_20091.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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