KEGG   VARIANT: 4893v2
Entry
4893v2                      Variant                                
Name
NRAS mutation
Type
Gain of function
Gene
NRAS  GTPase NRas [KO:K07828]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164790
Network
nt06526  MAPK signaling
nt06530  PI3K signaling
Disease
H01738  Noonan syndrome
H02541  Juvenile myelomonocytic leukemia
H02627  Epidermal nevus
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)
Reference
  Authors
Asch S, Sugarman JL
  Title
Epidermal nevus syndromes: New insights into whorls and swirls.
  Journal
Pediatr Dermatol 35:21-29 (2018)
DOI:10.1111/pde.13273
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