Publication
Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.
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 G380Rcivic_curation1.00
- variantFGFR3 K650Dcivic_curation1.00
- variantFGFR3 K650Ecivic_curation1.00
- variantFGFR3 K650Lcivic_curation1.00
- variantFGFR3 K650Qcivic_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
- 8754806
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| FGFR3 G380R1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID10416Achondroplasia associated FGFR3 mutant G380R (ACH), K650E (TDII), and wildtype (WT) FGFR3 constructs were cloned and transfected into NIH3T3 cells, and immunopercipitated with anti-FGFR3. In vitro ki… (full text at CIViC) PMID 8754806 · Webster et al., 1996 · Open in CIViC | civic |
| FGFR3 K650D1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 3 | accepted | EID10400NIH 3T3 cells were transfected with wild-type and mutant FGFR3 K650D. Immunoprecipitation measuring kinase activity showed FGFR3 K650D had similar autophosphorylation through constitutive action to FG… (full text at CIViC) PMID 8754806 · Webster et al., 1996 · Open in CIViC | civic |
| FGFR3 K650E1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 3 | accepted | EID10393NIH 3T3 cells were transfected with wild-type and mutant K650E FGFR3. Immunoprecipitation measuring kinase activity showed FGFR3 K650E had 100-fold greater autophosphorylation than wildtype. The autho… (full text at CIViC) PMID 8754806 · Webster et al., 1996 · Open in CIViC | civic |
| FGFR3 K650L1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID10402NIH 3T3 cells were transfected with wild-type and mutant FGFR3 K650L. Immunoprecipitation measuring kinase activity showed FGFR3 K650L had much lower autophosphorylation than FGFR3 K650E, which had 10… (full text at CIViC) PMID 8754806 · Webster et al., 1996 · Open in CIViC | civic |
| FGFR3 K650Q1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID10401NIH 3T3 cells were transfected with wild-type and mutant FGFR3 K650Q. Immunoprecipitation measuring kinase activity showed FGFR3 K650Q had much lower autophosphorylation to FGFR3 K650E, which had 100-… (full text at CIViC) PMID 8754806 · Webster et al., 1996 · Open in CIViC | civic |