KEGG   VARIANT: 5921v1
Entry
5921v1                      Variant                                
Name
RASA1 mutation
Type
Loss of function
Gene
RASA1  RAS p21 protein activator 1 [KO:K04352]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 139150
Network
nt06526  MAPK signaling
Disease
H00532  Parkes Weber syndrome
H02043  Capillary malformation-arteriovenous malformation
Reference
PMID:35103797
  Authors
Rauen KA
  Title
Defining RASopathy.
  Journal
Dis Model Mech 15:274193 (2022)
DOI:10.1242/dmm.049344
Reference
PMID:34175492
  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
PMID:14639529
  Authors
Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M
  Title
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
  Journal
Am J Hum Genet 73:1240-9 (2003)
DOI:10.1086/379793
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