KEGG   VARIANT: 3265v3
Entry
3265v3                      Variant                                
Name
HRAS mutation
Type
Gain of function
Gene
HRAS  HRas proto-oncogene, GTPase [KO:K02833]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190020
Network
nt06526  MAPK signaling
nt06530  PI3K signaling
Disease
H01747  Costello syndrome
H02627  Epidermal nevus
Reference
PMID:35103797
  Authors
Rauen KA
  Title
Defining RASopathy.
  Journal
Dis Model Mech 15:274193 (2022)
DOI:10.1242/dmm.049344
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
Reference
PMID:29044700
  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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