BRAF I463S - GET-Evidence

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

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Curation:
Currentness:

BRAF I463S

(BRAF Ile463Ser)


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: 0.808 (possibly damaging)
    Web search results (13 hits -- see all)
  • MoKCa
    Home :: List of genes :: Mutations of BRAF :: I463S. BRAF I463S. Mutation type. Missense. Domain. pfam_A: Pkinase residues 457 to 714. Prevalence ...
    strubiol.icr.ac.uk/extra/mokca/aggregate.php?...
  • share.gene.com
    ... G469S BRAF G469V BRAF G596R BRAF G606E BRAF G615R BRAF H608R BRAF I463S BRAF I582M BRAF I592M BRAF I592V BRAF K439Q BRAF K439T BRAF K475M BRAF ...
    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
  • Catalogue of Somatic Mutations in Cancer
    Primary Site; Subtype1; Subtype 2; Subtype 3. large intestine; NS; NS; NS. Primary ... BRAF. p.I463S. c.1388T>G. Variant of unknown origin. Unknown. References ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...
  • Catalogue of Somatic Mutations in Cancer
    BRAF is involved in fusions with FCHSD1 (1), KIAA1549 (120) Details ... Details for BRAF. Primary Tissue. Unique Mutated Samples % Mutated. Total Unique Samples ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?action=bygene&ln=BRAF
  • Development and Applications of a BRAF Oligonucleotide ...
    Oligonucleotide Sequences of the BRAF Oligonucleotide Microarray ... I463S. 11. 463. 5'-GGGACAAAGAAGTGGATCTGGAT-3' 18. 464W. 11. 464. 5'-ACAAAGAATTGGATCTGGATCAT-3' ...
    jmd.amjpathol.org/cgi/content/full/9/1/55/T1
  • Type III 95%
    ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ... 11596785 7530295 BRAF P15056 I463S 467 VAR_018614 CAMKL (0.607) AKT ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • Insulin-like Growth Factor Binding Protein 7 For Treatment Of ...
    ... suspected of having a tumor, and administering to the subject an effective amount of an IGFBP7 agent if the tumor has increased Ras-BRAF-MEK-Erk ...
    www.freshpatents.com/-dt20090604ptan20090142302.php
  • OMIM: 114500
    There were 32 mutations in BRAF, 28 with a V600E mutation (164757. ... R462I (164757.0002), I463S (164757.0003), G464E (164757.0004), or K601E (164757. ...
    www.genome.jp/dbget-bin/www_bget?omim+114500
  • Benzene Sulfonamide Thiazole and Oxazole Compounds - Patent ...
    The present invention provides thiazole sulfonamide and oxazole sulfonamide compounds, compositions containing the same, as well as processes for the preparation and ...
    www.freepatentsonline.com/y2009/0298815.html

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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