Publication
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
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Linked entities
Linked entities (6)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 6
- geneFGFR3civic_curation1.00
- variantFGFR3 K650Ecivic_curation1.00
- variantFGFR3 K650Mcivic_curation1.00
- variantFGFR3 K650Ncivic_curation1.00
- variantFGFR3 K650Qcivic_curation1.00
- variantFGFR3 K650Tcivic_curation1.00
Curated evidence
Evidence citing this paper (5)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 11055896
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| FGFR3 K650E1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 1 | accepted | EID10381The FGFR3 variant K650E is known to be responsible for thanatophoric dysplasia type 2 (TDII), a severe form of skeletal dysplasia. The mutant receptor was tested for comparison between other variants … (full text at CIViC) PMID 11055896 · Bellus et al., 2000 · Open in CIViC | civic |
| FGFR3 K650M1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID10380The K650M variant in FGFR3 is known to be responsible for the severe skeletal dysplasia forms seen in thanatophoric dysplasia type 1 / severe achondroplasia with developmental delay and acanthosis nig… (full text at CIViC) PMID 11055896 · Bellus et al., 2000 · Open in CIViC | civic |
| FGFR3 K650N1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID10377Five patients from four families suffering from skeletal dysplasia were found to harbor a novel heterozygous K650N variant in FGFR3. The variant cosegregated in two patients from one family (a father … (full text at CIViC) PMID 11055896 · Bellus et al., 2000 · Open in CIViC | civic |
| FGFR3 K650Q1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID10378A patient suffering from skeletal dysplasia was found to harbor a novel heterozygous K650Q variant in FGFR3. NIH3T3 cells were transfected with the variant construct followed by kinase activity assay … (full text at CIViC) PMID 11055896 · Bellus et al., 2000 · Open in CIViC | civic |
| FGFR3 K650T1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID10382FGFR3 cDNA construct with the K650T variant was synthesized and transfected into NIH3T3 cells. The K650T variant receptor had a 3.1-fold greater kinase activity compared to the wild type receptor in a… (full text at CIViC) PMID 11055896 · Bellus et al., 2000 · Open in CIViC | civic |