chr4:1795020:> Detail (hg19) (FGFR3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:1,795,020-1,810,599 |
| hg38 | chr4:1,793,293-1,808,872 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| bladder carcinoma | Infigratinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 27870574 | Detail |
| transitional cell carcinoma | Erdafitinib | A |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 31340094 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | squamous cell carcinoma | NA | BeFree,GAD | Detail | |
| 0.128 | Carcinoma, Transitional Cell | FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder. | BeFree,CTD_human,GAD | 24846059 | Detail |
| 0.128 | Carcinoma, Transitional Cell | We also found significant inverse correlation between FGFR3 mutations and TP53 a... | BeFree,CTD_human,GAD | 25537218 | Detail |
| 0.128 | Carcinoma, Transitional Cell | Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fib... | BeFree,CTD_human,GAD | 25809917 | Detail |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.121 | Uterine Cervical Neoplasm | NA | BeFree,CTD_human | Detail | |
| 0.002 | cheilitis | NA | GAD | Detail | |
| <0.001 | chondrosarcoma | NA | BeFree | Detail | |
| 0.002 | Chromosome Aberrations | NA | GAD | Detail | |
| 0.120 | cleft lip | NA | CTD_human | Detail | |
| 0.120 | cleft palate | NA | CTD_human | Detail | |
| 0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.120 | Colorectal Neoplasms | NA | CTD_human | Detail | |
| 0.001 | Craniofacial Dysostosis | NA | BeFree | Detail | |
| 0.030 | craniosynostosis | Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, wh... | BeFree,GAD,LHGDN | 24168007 | Detail |
| 0.030 | craniosynostosis | Most reported mutations in the FGFR3 gene are dominant activating mutations that... | BeFree,GAD,LHGDN | 24864036 | Detail |
| 0.030 | craniosynostosis | Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to ac... | BeFree,GAD,LHGDN | 25502720 | Detail |
| <0.001 | dermatosis papulosa nigra | NA | BeFree | Detail | |
| <0.001 | Down syndrome | NA | BeFree | Detail | |
| 0.009 | Dwarfism | Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a ... | BeFree | 25650377 | Detail |
| 0.009 | Dwarfism | A novel variant of FGFR3 causes proportionate short stature. | BeFree | 25777271 | Detail |
| <0.001 | Failure to Thrive | NA | BeFree | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.003 | Sensorineural Hearing Loss (disorder) | NA | LHGDN | Detail | |
| <0.001 | hypercalcemia | NA | BeFree | Detail | |
| 0.002 | Hypertensive disease | NA | GAD | Detail | |
| <0.001 | keratosis | NA | BeFree | Detail | |
| <0.001 | actinic keratosis | NA | BeFree | Detail | |
| 0.255 | seborrheic keratosis | The results of this study suggest that activating mutations of EGFR, HRAS, and K... | BeFree,CLINVAR,LHGDN,UNIPROT | 23739246 | Detail |
| 0.002 | Kidney Neoplasm | NA | GAD | Detail | |
| 0.003 | Fibroid Tumor | NA | LHGDN | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Leukemia, Plasma Cell | NA | BeFree | Detail | |
| 0.002 | Lip Neoplasms | NA | GAD | Detail | |
| 0.004 | lymphoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Waldenstrom Macroglobulinemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.003 | melanoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| <0.001 | Mental Retardation | NA | BeFree | Detail | |
| <0.001 | Monoclonal Gammopathy of Undetermined Significance | NA | BeFree | Detail | |
| <0.001 | morphine dependence | Recent data have indicated that α3β4* neuronal nicotinic (n) ACh receptors may p... | BeFree | 24750073 | Detail |
| <0.001 | mucopolysaccharidosis IV | NA | BeFree | Detail | |
| 0.269 | multiple myeloma | Protein Expression for Novel Prognostic Markers (Cyclins D1, D2, D3, B1, B2, ITG... | BeFree,CLINVAR,CTD_human,GAD,LHGDN | 25265432 | Detail |
| <0.001 | myasthenia gravis | NA | BeFree | Detail | |
| <0.001 | myocardial infarction | NA | BeFree | Detail | |
| 0.005 | Neoplasm Invasiveness | NA | GAD | Detail | |
| <0.001 | Neoplasm Metastasis | FGFR3 immunohistochemistry staining is present in one third of primary muscle-in... | BeFree | 24846059 | Detail |
| <0.001 | Neoplasm Metastasis | FGFR3-mutant tumors significantly correlated with lower tumor stage and grade, p... | BeFree | 25537218 | Detail |
| 0.002 | Neoplasm Recurrence, Local | NA | GAD | Detail | |
| 0.003 | Nevus | NA | LHGDN | Detail | |
| 0.003 | Osteochondrodysplasias | NA | BeFree,GAD | Detail | |
| <0.001 | Cartilaginous exostosis | NA | BeFree | Detail | |
| <0.001 | osteogenesis imperfecta | The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24... | BeFree | 24863959 | Detail |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| <0.001 | papilloma | NA | BeFree | Detail | |
| <0.001 | paraganglioma | Discordant results were observed for VEGFR1, p27, and p21 overexpressed in parag... | BeFree | 24390213 | Detail |
| <0.001 | pheochromocytoma | Discordant results were observed for VEGFR1, p27, and p21 overexpressed in parag... | BeFree | 24390213 | Detail |
| <0.001 | Precancerous Conditions | The ability of mutant FGFR3 to drive transcriptional expression profiles involve... | BeFree | 25223521 | Detail |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| <0.001 | retinoblastoma | It is unique among the epithelial carcinomas as two distinct pathways to tumouri... | BeFree | 26274747 | Detail |
| 0.120 | seminoma | NA | BeFree,CTD_human | Detail | |
| <0.001 | Senile lentigo | NA | BeFree | Detail | |
| <0.001 | Dermatologic disorders | NA | BeFree | Detail | |
| <0.001 | Skin Neoplasms | NA | BeFree | Detail | |
| <0.001 | spondyloepiphyseal dysplasia | NA | BeFree | Detail | |
| <0.001 | strabismus | NA | BeFree | Detail | |
| 0.005 | Congenital abnormal Synostosis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Testicular Neoplasms | NA | BeFree | Detail | |
| <0.001 | tuberous sclerosis | NA | BeFree | Detail | |
| 0.002 | Ureteral Neoplasms | NA | GAD | Detail | |
| <0.001 | Virus Diseases | NA | BeFree | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| 0.004 | peripheral T-cell lymphoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Squamous cell carcinoma of lung | NA | BeFree | Detail | |
| 0.002 | Congenital musculoskeletal anomalies | NA | GAD | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | FGFR3-TACC3 rearrangements occur in a subset of patients with lung adenocarcinom... | BeFree | 25294908 | Detail |
| <0.001 | Hearing Loss, Mixed Conductive-Sensorineural | NA | BeFree | Detail | |
| <0.001 | Sotos' syndrome | NA | BeFree | Detail | |
| 0.002 | Tumor Progression | The finding of shorter telomeres in tumors with TERT promoter and/or FGFR3 mutat... | BeFree | 25809917 | Detail |
| <0.001 | Germ cell tumor | Whereas FGFR3 mutations occurred with equal frequency in both sensitive and resi... | BeFree | 24812411 | Detail |
| <0.001 | inverted papilloma | NA | BeFree | Detail | |
| 0.120 | gliosarcoma | NA | ORPHANET | Detail | |
| 0.001 | Pfeiffer syndrome | NA | BeFree | Detail | |
| <0.001 | diastrophic dysplasia | NA | BeFree | Detail | |
| <0.001 | Acquired Camptodactyly | NA | BeFree | Detail | |
| <0.001 | Bladder papilloma | NA | BeFree | Detail | |
| <0.001 | Renal Cell Dysplasia | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | MicroRNA-100 regulates pancreatic cancer cells growth and sensitivity to chemoth... | BeFree | 25344675 | Detail |
| <0.001 | Gastrointestinal Stromal Tumors | Crosstalk between KIT and FGFR3 Promotes Gastrointestinal Stromal Tumor Cell Gro... | BeFree | 25432174 | Detail |
| 0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Atresia | NA | BeFree | Detail | |
| <0.001 | Epithelial hyperplasia of skin | NA | BeFree | Detail | |
| 0.001 | Disorder of skeletal system | NA | BeFree | Detail | |
| 0.360 | Lacrimoauriculodentodigital syndrome | NA | BeFree,CTD_human,ORPHANET,UNIPROT | Detail | |
| 0.001 | ACROCEPHALOPOLYSYNDACTYLY TYPE IV | NA | BeFree | Detail | |
| <0.001 | Leri-Weill dyschondrosteosis | NA | BeFree | Detail | |
| <0.001 | Organoid Nevus Phakomatosis | NA | BeFree | Detail | |
| <0.001 | Plagiocephaly | NA | BeFree | Detail | |
| <0.001 | Scaphycephaly | NA | BeFree | Detail | |
| <0.001 | Congenital anomaly of face | NA | BeFree | Detail | |
| <0.001 | Simple renal cyst | NA | BeFree | Detail | |
| <0.001 | Physical addiction | The α3β4* nicotinic ACh receptor subtype mediates physical dependence to morphin... | BeFree | 24750073 | Detail |
| <0.001 | Bladder cancer recurrent | NA | BeFree | Detail | |
| 0.621 | achondroplasia | A mouse model for achondroplasia was generated by introducing the human mutation... | BeFree | 11518810 | Detail |
| 0.001 | Transitional cell carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | Chondrodysplasia Punctata, Rhizomelic | NA | BeFree | Detail | |
| <0.001 | Stucco keratosis | NA | BeFree | Detail | |
| <0.001 | Lymphoid hyperplasia | NA | BeFree | Detail | |
| 0.120 | giant cell glioblastoma | NA | ORPHANET | Detail | |
| 0.004 | Chondrodysplasia | The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24... | BeFree | 24863959 | Detail |
| <0.001 | Malignant neoplasm of pancreas | MicroRNA-100 regulates pancreatic cancer cells growth and sensitivity to chemoth... | BeFree | 25344675 | Detail |
| <0.001 | Verrucous epidermal nevus | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of prostate | microRNA‑99a inhibits cell proliferation, colony formation ability, migration an... | BeFree,GAD | 25352177 | Detail |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| 0.495 | Hypochondroplasia (disorder) | This case represents a new expression of FGFR3 spectrum and it is of considerabl... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 24715719 | Detail |
| 0.495 | Hypochondroplasia (disorder) | Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 25777271 | Detail |
| <0.001 | Developmental delay (disorder) | NA | BeFree | Detail | |
| <0.001 | Osteoglophonic dwarfism | NA | BeFree | Detail | |
| 0.002 | Sleep Apnea, Obstructive | NA | GAD | Detail | |
| <0.001 | Recurrent tumor | NA | BeFree | Detail | |
| 0.002 | Squamous cell carcinoma of skin | NA | GAD | Detail | |
| 0.001 | prostate carcinoma | microRNA‑99a inhibits cell proliferation, colony formation ability, migration an... | BeFree | 25352177 | Detail |
| 0.001 | breast carcinoma | Whilst upregulation of this oncogene occurs most frequently in low-grade non-inv... | BeFree | 25071007 | Detail |
| 0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Congenital Camptodactyly | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | growth hormone treatment | NA | BeFree | Detail | |
| <0.001 | Cancer of Urinary Tract | NA | BeFree | Detail | |
| <0.001 | Myasthenic Syndromes, Congenital | NA | BeFree | Detail | |
| <0.001 | Rhabdoid Tumor of the Kidney | NA | BeFree | Detail | |
| <0.001 | Hyperkeratosis | NA | BeFree | Detail | |
| <0.001 | Growth failure | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| 0.002 | Thanatophoric dysplasia, type 1 | NA | BeFree | Detail | |
| <0.001 | Inverted Urothelial Papilloma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of urinary bladder, superficial | NA | BeFree | Detail | |
| 0.120 | Testicular Germ Cell Tumor | NA | UNIPROT | Detail | |
| 0.003 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Cancer Cell Growth | Inhibition of FGFR3 increased target cell apoptosis through the suppression of B... | BeFree | 24662823 | Detail |
| <0.001 | Skin Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Tumor Angiogenesis | NA | BeFree | Detail | |
| <0.001 | Urothelial Neoplasm | Molecular characteristics of urothelial neoplasms in children and young adults: ... | BeFree | 24743222 | Detail |
| <0.001 | Xenograft Model | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Dysmorphism | Documentation through X-ray morphometry and histology of the steady phenotype ex... | BeFree | 24859745 | Detail |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | stiff skin syndrome | NA | BeFree | Detail | |
| <0.001 | Wolf-Hirschhorn syndrome | NA | BeFree | Detail | |
| 0.005 | Urothelial Carcinoma | FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder. | BeFree | 24846059 | Detail |
| 0.005 | Urothelial Carcinoma | We also found significant inverse correlation between FGFR3 mutations and TP53 a... | BeFree | 25537218 | Detail |
| 0.005 | Urothelial Carcinoma | Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fib... | BeFree | 25809917 | Detail |
| <0.001 | Spondyloepiphyseal dysplasia, congenita | NA | BeFree | Detail | |
| <0.001 | Familial acanthosis nigricans | NA | BeFree | Detail | |
| <0.001 | Synostotic Anterior Plagiocephaly | NA | BeFree | Detail | |
| 0.001 | Craniofacial dysostosis type 1 | NA | BeFree | Detail | |
| 0.120 | Skeletal dysplasia, San Diego type | NA | ORPHANET | Detail | |
| <0.001 | Nasopharyngeal carcinoma | Recurrent FGFR3-TACC3 fusion gene in nasopharyngeal carcinoma. | BeFree | 25535896 | Detail |
| <0.001 | Bisphosphonate-associated osteonecrosis | NA | BeFree | Detail | |
| <0.001 | Overgrowth syndrome | This is the first report of a homozygous loss-of-function mutation in FGFR3 in h... | BeFree | 24864036 | Detail |
| <0.001 | Renal dysplasia | NA | BeFree | Detail | |
| <0.001 | autosomal dominant nocturnal frontal lobe epilepsy | NA | BeFree | Detail | |
| <0.001 | intellectual disability | Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, wh... | BeFree | 24168007 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | NA | BeFree | Detail | |
| 0.002 | Congenital Abnormality | Documentation through X-ray morphometry and histology of the steady phenotype ex... | BeFree | 24859745 | Detail |
| 0.014 | acanthosis nigricans | NA | BeFree,LHGDN | Detail | |
| 0.621 | achondroplasia | Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by ... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 24616001 | Detail |
| 0.621 | achondroplasia | Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for si... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25119967 | Detail |
| 0.621 | achondroplasia | Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to ac... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25502720 | Detail |
| 0.621 | achondroplasia | Achondroplasia (ACH), the most common form of human dwarfism, is caused by an ac... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25650377 | Detail |
| 0.001 | Apert syndrome | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Alcoholic Intoxication | NA | BeFree | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | Arachnodactyly | A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial ... | BeFree | 24864036 | Detail |
| <0.001 | Arnold Chiari Malformation | NA | BeFree | Detail | |
| <0.001 | Autoimmune Diseases | NA | BeFree | Detail | |
| <0.001 | Benign neoplasm of skin | NA | BeFree | Detail | |
| 0.155 | Bladder Neoplasm | Here, we analyzed the presence of mutations in FGFR3 and PIK3CA genes and copy n... | BeFree,CTD_human,GAD,LHGDN | 24347284 | Detail |
| 0.155 | Bladder Neoplasm | Pharmacologic blockade of the molecular chaperone HSP90 represents a promising a... | BeFree,CTD_human,GAD,LHGDN | 24784839 | Detail |
| <0.001 | Bone Diseases | NA | BeFree | Detail | |
| 0.001 | Bone Diseases, Developmental | Most reported mutations in the FGFR3 gene are dominant activating mutations that... | BeFree | 24864036 | Detail |
| 0.001 | Bone Diseases, Developmental | Aberrant expression and activation of FGFR3 is associated with disease states in... | BeFree | 25311528 | Detail |
| <0.001 | Bone neoplasms | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of breast | Whilst upregulation of this oncogene occurs most frequently in low-grade non-inv... | BeFree | 25071007 | Detail |
| <0.001 | Malignant neoplasm of skin | NA | BeFree | Detail | |
| 0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma, Papillary | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Phase 1 study of FGFR-inhibitor BGJ398 in advanced cancer with FGFR-aberrations. In the subgroup of ... | CIViC Evidence | Detail |
| In a phase 2 trial, patients with locally advanced and unresectable or metastatic urothelial carcino... | CIViC Evidence | Detail |
| NA | DisGeNET | Detail |
| FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder. | DisGeNET | Detail |
| We also found significant inverse correlation between FGFR3 mutations and TP53 alterations in urothe... | DisGeNET | Detail |
| Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fibroblast growth facto... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first descri... | DisGeNET | Detail |
| Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of ... | DisGeNET | Detail |
| Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to achondroplasia or synd... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic appr... | DisGeNET | Detail |
| A novel variant of FGFR3 causes proportionate short stature. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The results of this study suggest that activating mutations of EGFR, HRAS, and KRAS contribute to th... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recent data have indicated that α3β4* neuronal nicotinic (n) ACh receptors may play a role in morphi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Protein Expression for Novel Prognostic Markers (Cyclins D1, D2, D3, B1, B2, ITGβ7, FGFR3, PAX5) Cor... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FGFR3 immunohistochemistry staining is present in one third of primary muscle-invasive UCs and half ... | DisGeNET | Detail |
| FGFR3-mutant tumors significantly correlated with lower tumor stage and grade, papillary form of bla... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibrobla... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Discordant results were observed for VEGFR1, p27, and p21 overexpressed in paragangliomas but undere... | DisGeNET | Detail |
| Discordant results were observed for VEGFR1, p27, and p21 overexpressed in paragangliomas but undere... | DisGeNET | Detail |
| The ability of mutant FGFR3 to drive transcriptional expression profiles involved in tumor cell adhe... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| It is unique among the epithelial carcinomas as two distinct pathways to tumourigenesis appear to ex... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FGFR3-TACC3 rearrangements occur in a subset of patients with lung adenocarcinoma. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The finding of shorter telomeres in tumors with TERT promoter and/or FGFR3 mutations than without mu... | DisGeNET | Detail |
| Whereas FGFR3 mutations occurred with equal frequency in both sensitive and resistant GCTs, mutation... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MicroRNA-100 regulates pancreatic cancer cells growth and sensitivity to chemotherapy through target... | DisGeNET | Detail |
| Crosstalk between KIT and FGFR3 Promotes Gastrointestinal Stromal Tumor Cell Growth and Drug Resista... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The α3β4* nicotinic ACh receptor subtype mediates physical dependence to morphine: mouse and human s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-argini... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibrobla... | DisGeNET | Detail |
| MicroRNA-100 regulates pancreatic cancer cells growth and sensitivity to chemotherapy through target... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| microRNA‑99a inhibits cell proliferation, colony formation ability, migration and invasion by target... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the... | DisGeNET | Detail |
| Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| microRNA‑99a inhibits cell proliferation, colony formation ability, migration and invasion by target... | DisGeNET | Detail |
| Whilst upregulation of this oncogene occurs most frequently in low-grade non-invasive tumors, recent... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Inhibition of FGFR3 increased target cell apoptosis through the suppression of Bcl-xL expression, fo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Molecular characteristics of urothelial neoplasms in children and young adults: a subset of tumors f... | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder. | DisGeNET | Detail |
| We also found significant inverse correlation between FGFR3 mutations and TP53 alterations in urothe... | DisGeNET | Detail |
| Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fibroblast growth facto... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recurrent FGFR3-TACC3 fusion gene in nasopharyngeal carcinoma. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This is the first report of a homozygous loss-of-function mutation in FGFR3 in human that results in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first descri... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast gr... | DisGeNET | Detail |
| Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal d... | DisGeNET | Detail |
| Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to achondroplasia or synd... | DisGeNET | Detail |
| Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we analyzed the presence of mutations in FGFR3 and PIK3CA genes and copy number alterations of... | DisGeNET | Detail |
| Pharmacologic blockade of the molecular chaperone HSP90 represents a promising approach for treating... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of ... | DisGeNET | Detail |
| Aberrant expression and activation of FGFR3 is associated with disease states including bone dysplas... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Whilst upregulation of this oncogene occurs most frequently in low-grade non-invasive tumors, recent... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386626606 dbSNP
- Genome
- hg19
- Position
- chr4:1,795,020-1,810,599
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/827
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