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KEGG   VARIANT: 673v2
Entry
673v2                      Variant                                 
Name
BRAF mutation
Gene
BRAF  B-Raf proto-oncogene, serine/threonine kinase [KO:K04365]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164757
Network
nt06526  MAPK signaling
Disease
H01738  Noonan syndrome
H01745  Cardiofaciocutaneous syndrome
H01984  Leopard syndrome
Drug target
Tovorafenib: D12291<US>
Reference
  Authors
Tartaglia M, Aoki Y, Gelb BD
  Title
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
  Journal
Am J Med Genet C Semin Med Genet 190:425-439 (2022)
DOI:10.1002/ajmg.c.32012
Reference
  Authors
Riller Q, Rieux-Laucat F
  Title
RASopathies: From germline mutations to somatic and multigenic diseases.
  Journal
Biomed J 44:422-432 (2021)
DOI:10.1016/j.bj.2021.06.004
Reference
  Authors
Gao XM, Li J, Cao XX
  Title
Signaling pathways, microenvironment, and targeted treatments in Langerhans cell histiocytosis.
  Journal
Cell Commun Signal 20:195 (2022)
DOI:10.1186/s12964-022-00917-0
Reference
  Authors
Pegoraro F, Papo M, Maniscalco V, Charlotte F, Haroche J, Vaglio A
  Title
Erdheim-Chester disease: a rapidly evolving disease model.
  Journal
Leukemia 34:2840-2857 (2020)
DOI:10.1038/s41375-020-0944-4
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