KEGG   VARIANT: 8036v1
Entry
8036v1                      Variant                                
Name
SHOC2 mutation
Type
Gain of function
Gene
SHOC2  SHOC2 leucine rich repeat scaffold protein [KO:K19613]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602775
Network
nt06526  MAPK signaling
Disease
H02191  Noonan-like syndrome with loose anagen hair
Reference
  Authors
Pudewell S, Wittich C, Kazemein Jasemi NS, Bazgir F, Ahmadian MR
  Title
Accessory proteins of the RAS-MAPK pathway: moving from the side line to the front line.
  Journal
Commun Biol 4:696 (2021)
DOI:10.1038/s42003-021-02149-3
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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