BRAF E501K - GET-Evidence

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

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(BRAF Glu501Lys)

Short summary


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


Insufficiently evaluated pathogenic

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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