FGFR3 R248C [plasma membrane]

Stable Identifier
R-HSA-1614419
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
FGFR3 R248C [plasma membrane] icon
FGFR3 R248C [plasma membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
7773297 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Tavormina, PL, Shiang, R, Thompson, LM, Zhu, YZ, Wilkin, DJ, Lachman, RS, Wilcox, WR, Rimoin, DL, Cohn, DH, Wasmuth, JJ

Nat Genet 1995
8845844 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

Rousseau, F, El Ghouzzi, V, Delezoide, AL, Legeai-Mallet, L, Le Merrer, M, Munnich, A, Bonaventure, J

Hum Mol Genet 1996
8589699 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Tavormina, PL, Rimoin, DL, Cohn, DH, Zhu, YZ, Shiang, R, Wasmuth, JJ

Hum Mol Genet 1995
11529856 Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14)

Intini, D, Baldini, L, Fabris, S, Lombardi, L, Ciceri, G, Maiolo, AT, Neri, A

Br J Haematol 2001
12368157 Novel mutation and RNA splice variant of fibroblast growth factor receptor 3 in multiple myeloma patients at diagnosis

Soverini, S, Terragna, C, Testoni, N, Ruggeri, D, Tosi, P, Zamagni, E, Cellini, C, Cavo, M, Baccarani, M, Tura, S, Martinelli, G

Haematologica 2002
19327639 Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip

Chou, A, Dekker, N, Jordan, RC

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009
10471491 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas

Cappellen, D, De Oliveira, C, Ricol, D, de Medina, S, Bourdin, J, Sastre-Garau, X, Chopin, D, Thiery, JP, Radvanyi, F

Nat Genet 1999
External Reference Information
External Reference
UniProt:P22607 FGFR3
Gene Names
FGFR3, JTK4
Chain
signal peptide:1-22, chain:23-806
Reference Genes
BioGPS Gene:2261 FGFR3
COSMIC (genes):FGFR3 FGFR3
CTD Gene:2261 FGFR3
dbSNP Gene:2261 FGFR3
ENSEMBL:ENSG00000068078 FGFR3
HGNC:3690 FGFR3
KEGG Gene (Homo sapiens):2261 FGFR3
Monarch:2261 FGFR3
NCBI Gene:2261 FGFR3
OMIM:134934 FGFR3
UCSC:P22607 FGFR3
Reference Transcript
Other Identifiers
0002940050
0003850722
11717969_a_at
11755786_a_at
16964027
1RY7
204379_s_at
204380_s_at
2261
2715017
2715018
2715019
2715026
2715027
2715028
2715029
2715030
2715031
2715032
2715033
2715039
2715040
2715041
2715042
2715043
2715045
2715046
2715047
2715048
2715049
2715051
2715053
2715054
2715056
2715057
2715058
2LZL
31805_at
4231
4K33
67204
8093518
A_14_P132738
A_23_P212830
A_23_P500501
AAA52450
AAA58470
AAA63209
AAA67781
AAB33323
AAF63380
AAU89726
AB209441
AC016773
AF245114
AY768549
BAD92678
CAA59334
CAB004231
CCDS3353
CCDS3354
CCDS54706
CH471131
EAW82564
EAW82565
EAW82566
EAW82567
ENSG00000068078
ENSP00000231803
ENSP00000339824
ENSP00000412903
ENSP00000414914
ENSP00000420533
ENSP00000479472
ENST00000340107
ENST00000340107.8
ENST00000352904
ENST00000352904.6
ENST00000412135
ENST00000412135.6
ENST00000440486
ENST00000440486.7
ENST00000481110
ENST00000613647
EntrezGene:2261
EntrezGene:FGFR3
F8W9L4
FGFR3
FGFR3-202
FGFR3-203
FGFR3-204
FGFR3-205
g13112046_3p_a_at
g182568_3p_a_at
GE577766
GE58034
GO:0000165
GO:0000166
GO:0001501
GO:0001958
GO:0002062
GO:0003416
GO:0003674
GO:0004672
GO:0004713
GO:0004714
GO:0005007
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005783
GO:0005794
GO:0005886
GO:0005887
GO:0005925
GO:0006464
GO:0006468
GO:0006629
GO:0006915
GO:0007165
GO:0007169
GO:0007267
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0008543
GO:0009986
GO:0010518
GO:0016020
GO:0016021
GO:0016301
GO:0016310
GO:0016740
GO:0017134
GO:0018108
GO:0021700
GO:0030133
GO:0030154
GO:0030282
GO:0031410
GO:0032991
GO:0035988
GO:0040007
GO:0042531
GO:0042802
GO:0043167
GO:0043226
GO:0043235
GO:0043410
GO:0043552
GO:0046777
GO:0048640
GO:0048856
GO:0051897
GO:0060349
GO:0070374
GO:0070977
GO:1902178
HGNC:3690
HPA067204
I6LM06
ILMN_1651966
ILMN_1723123
IPR000719
IPR001245
IPR003598
IPR003599
IPR007110
IPR008266
IPR011009
IPR013098
IPR013783
IPR016248
IPR017441
IPR020635
IPR036179
IPR041159
LRG_1021
LRG_1021t1
LRG_1021t2
M58051
M59374
M64347
M64347_at
MIM:100800
MIM:109800
MIM:114500
MIM:134934
MIM:146000
MIM:149730
MIM:162900
MIM:187600
MIM:187601
MIM:273300
MIM:602849
MIM:603956
MIM:610474
MIM:612247
MIM:616482
NM_000142
NM_001163213
NM_001354809
NM_022965
NP_000133
NP_001156685
NP_001341738
NP_075254
PF07679
PF07714
PF13927
PF18123
PR00109
Q96T34
S76733
SM00219
SM00408
SM00409
TC04000029.hg
TC04001856.hg
U22410
UPI000002A9AC
UPI000002A9AD
UPI000012A72C
X84939
XM_006713868
XM_006713869
XM_006713870
XM_006713871
XM_006713873
XM_011513420
XM_011513422
XP_006713931
XP_006713932
XP_006713933
XP_006713934
XP_006713936
XP_011511722
XP_011511724
Participant Of
hasMember
hasComponent
Other forms of this molecule
FGFR3 K650T [plasma membrane]
FGFR3 K650N [plasma membrane]
FGFR3 K650M [plasma membrane]
FGFR3 K650Q [plasma membrane]
FGFR3 A391E [plasma membrane]
FGFR3 K650E [plasma membrane]
FGFR3 G380R [plasma membrane]
FGFR3 G382D [plasma membrane]
FGFR3 795fs*139 [plasma membrane]
FGFR3 [plasma membrane]
FGFR3 S371C [plasma membrane]
FGFR3 Y373C [plasma membrane]
FGFR3 G370C [plasma membrane]
p-6Y-FGFR3 S371C [plasma membrane]
p-6Y-FGFR3 G370C [plasma membrane]
p-6Y-FGFR3 Y373C [plasma membrane]
p-6Y-FGFR3 795fs*139 [plasma membrane]
p-6Y-FGFR3 R248C [plasma membrane]
pY-FGFR3 [plasma membrane]
p-6Y-FGFR3 K650Q [plasma membrane]
p-6Y-FGFR3 K650N [plasma membrane]
p-6Y-FGFR3 K650E [plasma membrane]
p-6Y-FGFR3 K650M [plasma membrane]
p-6Y-FGFR3 G380R [plasma membrane]
p-6Y-FGFR3 G382D [plasma membrane]
p-6Y-FGFR3 K650T [plasma membrane]
p-6Y-FGFR3 A391E [plasma membrane]
p-4Y FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
p-4Y FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
p-4Y FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
p-4Y FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
Modified Residues
Name
L-arginine 248 replaced with L-cysteine
Coordinate
248
PsiMod
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
bladder carcinoma 4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
multiple myeloma 9538
cancer 162 malignant tumor, malignant neoplasm, primary cancer
head and neck squamous cell carcinoma 5520 carcinoma of the head and neck, squamous cell carcinoma of the head and neck
bone development disease 0080006
thanatophoric dysplasia 13481
Cross References
RefSeq
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
PDB
ZINC - Investigational
COSMIC
GeneCards
ZINC - Predictions - Purchasable
Orphanet
Interactors (1)