BRAF K601E - 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 K601E

(BRAF Lys601Glu)


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: 0.88 (probably damaging)
    Web search results (160 hits -- see all)
  • Functional Characterization of the Novel T599I-VKSRdel BRAF ...
    The K601E mutation was found in one FV-PTC and in two micro-PTC with ... of BRAF, which is also targeted by most activating mutations (V600E, K601E, V599ins, ...
    jcem.endojournals.org/cgi/content/full/93/11/4398
  • Association of BRAF V600E Mutation with Poor ...
    Association of BRAF V600E Mutation with Poor Clinicopathological ... Other more rare BRAF mutations have been found. In particular, the K601E (G1801A transversion) mutation has ...
    jcem.endojournals.org/cgi/content/full/92/11/4085
  • A new BRAF gene mutation detected in a case of a solid ...
    A new BRAF gene mutation detected in a case of a solid variant of papillary thyroid carcinoma. ... papillary growth pattern, whereas BRAF(K601E) is associated with the ...
    www.ncbi.nlm.nih.gov/pubmed/16021577
  • Association of BRAF V600E mutation with poor ...
    Association of BRAF V600E mutation with poor clinicopathological ... the most common BRAF V600E mutation in 214 cases (42.8%), BRAF K601E mutation in three ...
    www.ncbi.nlm.nih.gov/pubmed/17785355
  • Medline ┬« Abstract for Reference of 'Oncogenes and tumor ...
    OBJECTIVE: We examined BRAF mutations in a consecutive series of 500 PTC patients who ... the most common BRAF V600E mutation in 214 cases (42.8%), BRAF K601E mutation in three ...
    uptodate.com/patients/content/abstract.do?...&refNum=46
  • CRAF inhibition induces apoptosis in melanoma cells with non ...
    lines with three non-V600E BRAF mutations (K601E, G469E and D594G). Two of these (G469E ... K601E BRAF mutation. Western blot analysis revealed all three of the non- V600E BRAF ...
    www.wistar.org/Herlyn/Pub PDFs/2008/Smalley2008-3.pdf
  • Catalogue of Somatic Mutations in Cancer
    BRAF. p.V600E. 945758. BRAF. p.V600E. 945759. BRAF. p.V600E. 945760. BRAF. p. ... V600E. 945763. BRAF. p.V600E. 945764. BRAF. p.V600E. 945765. BRAF. p.V600E. 945766. BRAF ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=15667
  • Giannini, R (Riccardo)
    BRAF mutations in thyroid tumors are restricted to papillary ... BRAF kinase and signaling were increased to a similar extent by the T599I-VKSR(600-603)del, V600E and K601E ...
    lib.bioinfo.pl/auid:9947
  • AutoGenomics INFINITI BRAF
    The INFINITI® BRAF Assay is designed to identify BRAF genetic mutations. ... The INFINITI BRAF Assay is for research use only. Not for use in diagnostic procedures. ...
    www.autogenomics.com/1/cancer_BRAF.php
  • BRAF Mutation in Papillary Thyroid Cancer: Pathogenic Role ...
    BRAF Mutation in Papillary Thyroid Cancer: Pathogenic Role, Molecular ... in thyroid cancer, such as the BRAF K601E (44), AKAP9-BRAF (45), BRAF V599ins (46), BRAF ...
    edrv.endojournals.org/cgi/content/full/28/7/742

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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