KEGG   VARIANT: 2261v1
Entry
2261v1                      Variant                                
Name
FGFR3 mutation
Type
Gain of function
Gene
FGFR3  fibroblast growth factor receptor 3 [KO:K05094]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation S249C
ClinVar: 16339
dbSNP: rs121913483
COSM: 715
Variation
mutation G372C
ClinVar: 16359
dbSNP: rs121913479
Variation
mutation R248C
ClinVar: 16332
dbSNP: rs12193482
COSM: 714
Variation
mutation S371C
ClinVar: 16333
dbSNP: rs121913484
Variation
mutation Y373C
ClinVar: 16342
dbSNP: rs121913485
COSM: 718
Variation
mutation K650Q
ClinVar: 16348
dbSNP: rs78311289
COSM: 726
Network
nt06210  ERK signaling (cancer)
nt06265  Bladder cancer
nt06526  MAPK signaling
Disease
H00022  Bladder cancer
Reference
PMID:21264819
  Authors
Dodurga Y, Tataroglu C, Kesen Z, Satiroglu-Tufan NL
  Title
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer.
  Journal
Genet Mol Res 10:86-95 (2011)
DOI:10.4238/vol10-1gmr923
Reference
PMID:15897885
  Authors
Jebar AH, Hurst CD, Tomlinson DC, Johnston C, Taylor CF, Knowles MA
  Title
FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma.
  Journal
Oncogene 24:5218-25 (2005)
DOI:10.1038/sj.onc.1208705
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