BRAF E501K - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

BRAF E501K

(BRAF Glu501Lys)


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: 0.991 (probably damaging)
    Web search results (4 hits -- see all)
  • Long term growth hormone treatment improves adult height in ...
    and E-ras), SOS-1 gene and BRAF gene showed a mutation in SOS-1 in 1 child and a ... BRAF+ 1501G>A (E501K) Pulmonary valve stenosis. 9.9. 207. F. 9.7. –2.5 ...
    www.eje-online.org/cgi/reprint/EJE-08-0413v1.pdf
  • Targeting the Raf-MEK-ERK mitogen-activated protein kinase ...
    Division of Pharmacotherapy and Experimental Therapeutics, Lineberger Comprehensive ... E501K, N518D, F595L, G596V. Niihori et al. (2006); Rodriguez-Viciana ...
    www.d.umn.edu/~pschoff/documents/MAPKrev.pdf
  • Type III 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... 11596785 7530295 BRAF P15056 I463S 467 VAR_018614 CAMKL (0.607) AKT ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • OMIM
    Thyroid cancri con BRAF mutazione erano preferenzialmente sensibili to MEK inhibitors, ... in esone 12 della BRAF gene, predicendo a glu501-to-lys (E501K) aminoacidi cambiamenti. ...
    www.fonama.org/i_omim/1/i_164757.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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