rs121913483
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.820
GeneticVariation
BEFREE
PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C , one of the most common mutations in bladder cancer .
30975452
2019
rs121913483
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.820
GeneticVariation
BEFREE
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer .
17384684
2007
rs121913483
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.820
GeneticVariation
UNIPROT
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
11314002
2001
rs121913483
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.820
GeneticVariation
UNIPROT
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
10471491
1999
rs121913483
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
G
0.820
CausalMutation
CLINVAR
rs121913482
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.800
GeneticVariation
UNIPROT
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
11314002
2001
rs78311289
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.800
GeneticVariation
UNIPROT
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
11314002
2001
rs121913482
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.800
GeneticVariation
UNIPROT
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
10471491
1999
rs78311289
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.800
GeneticVariation
UNIPROT
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
10471491
1999
rs121913482
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
T
0.800
CausalMutation
CLINVAR
rs78311289
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
C
0.800
CausalMutation
CLINVAR
rs121913479
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.700
GeneticVariation
UNIPROT
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
11314002
2001
rs121913479
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.700
GeneticVariation
UNIPROT
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
10471491
1999
rs121913105
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
C
0.700
CausalMutation
CLINVAR
rs28931614
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
A
0.700
CausalMutation
CLINVAR
rs28933068
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
G
0.700
CausalMutation
CLINVAR
rs4647924
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
G
0.700
CausalMutation
CLINVAR
rs28931615
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.020
GeneticVariation
BEFREE
First, we show that the A391E mutation, linked to Crouzon syndrome with acanthosis nigricans and to bladder cancer , significantly enhances FGFR3 dimerization in the absence of ligand and thus induces aberrant receptor interactions.
26244699
2015
rs28931615
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.020
GeneticVariation
BEFREE
An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer .
16384584
2006
rs17881656
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.010
GeneticVariation
BEFREE
The findings of this large study strongly support the notion that FGFR3 mutations characterize a subgroup of bladder cancers with good prognosis; patients with mutant TaG1 tumors have a higher risk of recurrence; and the F386L variant is selectively associated with low-grade tumors.
16877735
2006