KEGG   VARIANT: 6654v1
Entry
6654v1                      Variant                                
Name
SOS1 mutation
Type
Gain of function
Gene
SOS1  son of sevenless homolog 1 isoform 1 [KO:K03099]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 182530
Network
nt06526  MAPK signaling
Disease
H01250  Hereditary gingival fibromatosis
H01738  Noonan syndrome
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
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