FGFR3 R248C [plasma membrane]

Stable Identifier
R-HSA-1614419
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
FGFR3 R248C [plasma membrane] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
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
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
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
Gene Names
FGFR3, JTK4
Chain
signal peptide:1-22, chain:23-806
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 248 replaced with L-cysteine
Coordinate
248
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
multiple myeloma DOID:9538
bladder carcinoma DOID:4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
head and neck squamous cell carcinoma DOID:5520 carcinoma of the head and neck, squamous cell carcinoma of the head and neck
bone development disease DOID:0080006
thanatophoric dysplasia DOID:13481
Cross References
Interactors (55)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P08238 HSP90AB1  6 0.667 4
 UniProt:O95674 CDS2  1 0.659 4
 UniProt:Q96T60 PNKP  1 0.556 3
 UniProt:P62333 PSMC6  2 0.556 3
 UniProt:O15534 PER1  4 0.556 3
 UniProt:A0AVK6 E2F8  1 0.556 3
 UniProt:Q9NZH6 IL37  6 0.556 3
 UniProt:P01106 MYC  2 0.556 3
 UniProt:Q13352 ITGB3BP  2 0.556 3
 UniProt:P10809 HSPD1  6 0.556 3
 UniProt:P24941 CDK2  5 0.556 3
 UniProt:Q86WV5 TEN1  1 0.556 3
 UniProt:O43504 LAMTOR5  1 0.556 3
 UniProt:Q6N021 TET2  1 0.556 3
 UniProt:Q7Z7J5 DPPA2  1 0.556 3
 UniProt:Q8WUX9 CHMP7  2 0.556 3
 UniProt:Q16621 NFE2  1 0.556 3
 UniProt:Q13573 SNW1  1 0.556 3
 UniProt:Q06547-2 GABPB1  1 0.556 3
 UniProt:Q6NXG1 ESRP1  3 0.556 3
 UniProt:P19388 POLR2E  2 0.556 3
 UniProt:P14618 PKM  4 0.556 3
 UniProt:Q9H147 DNTTIP1  1 0.556 3
 UniProt:Q15814 TBCC  1 0.556 3
 UniProt:Q8N5V2 NGEF  2 0.556 3
 UniProt:Q9UBX5 FBLN5  1 0.556 3
 UniProt:Q9GZQ8 MAP1LC3B  3 0.556 3
 UniProt:Q06323 PSME1  1 0.556 3
 UniProt:P41134 ID1  1 0.556 3
 UniProt:Q99075 HBEGF  8 0.556 3
 UniProt:Q9H2A9 CHST8  1 0.556 3
 UniProt:Q04206 RELA  7 0.556 3
 UniProt:P22692 IGFBP4  5 0.556 3
 UniProt:Q06547-3 GABPB1  1 0.556 3
 UniProt:O14544 SOCS6  1 0.556 3
 UniProt:P17275 JUNB  1 0.556 3
 UniProt:Q9Y2Y0 ARL2BP  2 0.556 3
 UniProt:P55318 FOXA3  1 0.556 3
 UniProt:Q9UJU6 DBNL  7 0.556 3
 UniProt:Q6IAA8 LAMTOR1  5 0.556 3
 UniProt:Q99743 NPAS2  2 0.556 3
 UniProt:P05412 JUN  4 0.556 3
 UniProt:Q9BXU0 TEX12  1 0.556 3
 UniProt:Q12824 SMARCB1  1 0.556 3
 UniProt:Q96EZ8 MCRS1  1 0.556 3
 UniProt:P38936 CDKN1A  5 0.556 3
 UniProt:O14641 DVL2  5 0.556 3
 UniProt:P22415 USF1  2 0.556 3
 UniProt:Q9BVC3 DSCC1  1 0.556 3
 UniProt:P62244 RPS15A  2 0.556 3
 UniProt:P23771 GATA3  2 0.556 3
 UniProt:Q9UKV8 AGO2  2 0.556 3
 UniProt:Q00994 BEX3  1 0.556 3
 UniProt:Q07869 PPARA  2 0.556 3
 UniProt:Q8N3R9 PALS1  2 0.556 3
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