KEGG   VARIANT: 5781v1
Entry
5781v1                      Variant                                
Name
PTPN11 mutation
Type
Gain of function
Gene
PTPN11  protein tyrosine phosphatase non-receptor type 11 [KO:K07293]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176876
Network
nt06526  MAPK signaling
Disease
H01738  Noonan syndrome
H01984  Leopard syndrome
H02541  Juvenile myelomonocytic leukemia
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
Reference
  Authors
Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R
  Title
Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management.
  Journal
Am J Blood Res 11:1-21 (2021)
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