KEGG   VARIANT: 5894v1
Entry
5894v1                      Variant                                
Name
RAF1 mutation
Type
Gain of function
Gene
RAF1  Raf-1 proto-oncogene, serine/threonine kinase [KO:K04366]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164760
Network
nt06526  MAPK signaling
Disease
H01738  Noonan syndrome
H01984  Leopard syndrome
Reference
PMID:36394128
  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
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