KEGG   VARIANT: 2263v3
Entry
2263v3                      Variant                                
Name
FGFR2 mutation
Type
Gain of function
Gene
FGFR2  fibroblast growth factor receptor 2 [KO:K05093]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176943
Network
nt06526  MAPK signaling
Disease
H01753  Antley-Bixler syndrome
H01754  Crouzon syndrome
H01755  Apert syndrome
H01756  Pfeiffer syndrome
H01988  Jackson-Weiss syndrome
H01989  Beare-Stevenson syndrome
H01991  Saethre-Chotzen syndrome
Reference
PMID:32879300
  Authors
Xie Y, Su N, Yang J, Tan Q, Huang S, Jin M, Ni Z, Zhang B, Zhang D, Luo F, Chen H, Sun X, Feng JQ, Qi H, Chen L
  Title
FGF/FGFR signaling in health and disease.
  Journal
Signal Transduct Target Ther 5:181 (2020)
DOI:10.1038/s41392-020-00222-7
Reference
PMID:30862318
  Authors
Vogiatzi A, Mavrothalassitis G
  Title
Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway.
  Journal
Expert Rev Mol Med 21:e2 (2019)
DOI:10.1017/erm.2019.2
LinkDB

DBGET integrated database retrieval system