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Gene Symbol FGFR3
Synonyms ACH | CD333 | CEK2 | HSFGFR3EX | JTK4
Gene Description FGFR3, fibroblast growth factor receptor 3, is a receptor tyrosine kinase activated upon binding of the FGF ligand, which activates RAS-MAPK and PI3K-AKT pathways (PMID: 22508544). Altered function of FGFR3 in cancer may lead to increased cell proliferation and decreased apoptosis (PMID: 22508544) and mutations and fusions are commonly observed in bladder cancer (PMID: 30975452, PMID: 23175443).
NCBI Gene ID Chromosome Map Location Canonical Transcript
2261 4 4p16.3 NM_000142

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A257V missense unknown FGFR3 A257V lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). A257V has been identified in sequencing studies (PMID: 29338072, PMID: 27502722), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
A341T missense unknown FGFR3 A341T lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). A341T has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
A391E missense gain of function FGFR3 A391E lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). A391E results in increased dimerization and ligand-independent activation of Fgfr3 in cell culture (PMID: 21536014, PMID: 23437153)
A391V missense no effect - predicted FGFR3 A391V lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). A391V has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Fgfr3 in culture (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
A452S missense no effect - predicted FGFR3 A452S does not lie within any known functional domains of Fgfr3 protein (UniProt.org). A452S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
A500T missense no effect FGFR3 A500T lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). A500T demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
A634T missense unknown FGFR3 A634T lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). A634T results in decreased cell proliferation and cell viability compared to wild-type Fgfr3 in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
act mut unknown gain of function FGFR3 act mut indicates that this variant results in a gain of function in the Fgfr3 protein. However, the specific amino acid change has not been identified.
amp none no effect FGFR3 amp indicates an increased number of copies of the FGFR3 gene. However, the mechanism causing the increase is unspecified.
C228R missense gain of function - predicted FGFR3 C228R lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). C228R results in the stabilization of Fgfr3 dimers in culture (PMID: 27596331), and therefore, is predicted to result in a gain of Fgfr3 protein function.
C582F missense no effect FGFR3 C582F lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). C582F demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
D222N missense unknown FGFR3 D222N lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). D222N has been identified in the scientific literature (PMID: 27271022), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
D617G missense loss of function - predicted FGFR3 D617G lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). D617G results in a loss of Fgfr3 activity in cell culture (PMID: 26992226), and therefore, is predicted to result in a loss of Fgfr3 protein function.
D641G missense gain of function FGFR3 D641G lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). D641G results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226).
D641N missense gain of function FGFR3 D641N lies within the TK-2 domain of the Fgfr3 protein (PMID: 19287463). D641N results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226).
D646Y missense no effect FGFR3 D646Y lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). D646Y demonstrates autophosphorylation and substrate phosphorylation similar to the level of wild-type Fgfr3 in cell culture (PMID: 26992226).
D762H missense no effect - predicted FGFR3 D762H does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). D762H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
D764H missense unknown FGFR3 D764H (corresponds to D762H in the canonical isoform) lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D764H has not been biochemically characterized, and is conflicting as it results in increased proliferation in some cell culture conditions, but not others (PMID: 27053219), and therefore, its effect on Fgfr3 protein function is unknown.
D785N missense no effect - predicted FGFR3 D785N does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). D785N has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
D786N missense gain of function - predicted FGFR3 D786N does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). D786N has not been biochemically characterized, but is predicted to confer a gain of function on the Fgfr3 protein as demonstrated by increased transformation ability (PMID: 29533785).
D788N missense unknown FGFR3 D788N (corresponds to D785N in the canonical isoform) lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D788N has not been biochemically characterized, and is conflicting as it results in increased proliferation in some cell culture conditions, but not others (PMID: 27053219), and therefore, its effect on Fgfr3 protein function is unknown.
dec exp none no effect FGFR3 dec exp indicates decreased expression of the Fgfr3 protein. However, the mechanism causing the decreased expression is unspecified.
E216K missense unknown FGFR3 E216K lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). E216K has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
E322K missense unknown FGFR3 E322K lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). E322K has been identified in sequencing studies (PMID: 21447618, PMID: 11325814), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
E360Q missense loss of function - predicted FGFR3 E360Q does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). E360Q has not been biochemically characterized, but is predicted to confer a loss of function on the Fgfr3 protein as demonstrated by decreased transformation ability as compared to wild-type Fgfr3 (PMID: 29533785).
E456K missense unknown FGFR3 E456K lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). E456K has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
E466K missense no effect FGFR3 E466K lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). E466K demonstrates Fgfr3 autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
E627D missense no effect FGFR3 E627D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E627D demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
E686K missense unknown FGFR3 E686K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E686K has been identified in the scientific literature (PMID: 19327639), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
F384L missense no effect FGFR3 F384L lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). F384L does not result in activation of Fgfr3 and is not transforming in cell culture (PMID: 11157491, PMID: 29533785).
F386L missense unknown FGFR3 F386L lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). F386L is a common Fgfr3 polymorphism (PMID: 19377444, PMID: 16877735), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
FGFR3 - BAIAP2L1 fusion gain of function FGFR3-BAIAP2L1 results from the fusion of FGFR3 and BAIAP2L1, demonstrating constitutive activation of downstream signaling and transformation of cells in culture (PMID: 23175443). FGFR3-BAIAP2L1 has been identified in bladder cancer (PMID: 23175443).
FGFR3 - ELAVL3 fusion unknown FGFR3-ELAVL3 results from the fusion of FGFR3 and ELAVL3 (PMID: 25204415). FGFR3-ELAVL3 has been identified in glioma (PMID: 25204415, PMID: 26061751), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Aug 2019).
FGFR3 - TACC3 fusion gain of function FGFR3-TACC3 results from the fusion of FGFR3 and TACC3, demonstrating constitutive kinase activity, transforming activity in culture and ability to drive tumor growth in xenografts (PMID: 25294908, PMID: 22837387). FGFR3-TACC3 has been identified in lung adenocarcinoma and glioblastoma (PMID: 25294908, PMID: 22837387).
fusion fusion unknown FGFR3 fusion indicates a fusion of the FGFR3 gene, but the fusion partner is unknown.
G197S missense unknown FGFR3 G197S lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). G197S has been identified in sequencing studies (PMID: 25801821, PMID: 17344920), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
G235D missense unknown FGFR3 G235D lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). G235D has been identified in the scientific literature (PMID: 27271022), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
G346E missense no effect - predicted FGFR3 G346E lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). G346E results in reduced dimer formation, but demonstrates similar Fgfr3 autophosphorylation to wild-type in the absence of ligand in culture (PMID: 22529939), and therefore, is predicted to have no effect on Fgfr3 protein function.
G370C missense gain of function FGFR3 G370C lies within the juxtamembrane region of the Fgfr3 protein (PMID: 12009017). G370C confers a gain of function to the Fgfr3 protein, resulting in increased Fgfr3 phosphorylation compared to wild-type and constitutive activation of the mitogen activated protein kinase (MAPK) signaling pathway (PMID: 12009017).
G372C missense gain of function FGFR3 G372C (equivalent to G370C in isoform1) lies within the extracellular domain of the Fgfr3 protein (UniProt.org). G372C confers a gain of function on Fgfr3, as indicated by ligand-independent phosphorylation and dimerization of Fgfr3, and activation of MAPK pathway in cell culture (PMID: 16841094, PMID: 12009017).
G375C missense gain of function - predicted FGFR3 G375C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). G375C results in a similar dimer formation to wild-type, but demonstrates increased Fgfr3 autophosphorylation in the absence of ligand in culture (PMID: 22529939), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
G380R missense gain of function FGFR3 G380R lies within the transmembrane domain of the Fgfr3 protein (PMID: 20624921). G380R results in increased ligand-independent phosphorylation of Fgfr3 and enhanced ligand-dependent activation of downstream signaling, but is not transforming in cell culture (PMID: 20624921, PMID: 9136983, PMID: 10611230).
G382D missense gain of function - predicted FGFR3 G382D lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G382D results in constitutive activation of Fgfr3 and downstream signaling, but is not transforming in cell culture (PMID: 11429702), and therefore, is predicted to result in a gain of Fgfr3 protein function.
G382R missense gain of function FGFR3 G382R lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G382R results in increased Fgfr3 protein dimerization and constitutive activation (PMID: 16841094), and has also been shown to inhibit receptor internalization (PMID: 17172848).
G384D missense unknown FGFR3 G384D (corresponds to G382D in the canonical isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G384D has variable effects on the activation of Fgfr3, and is not transforming in cell culture (PMID: 11429702), and therefore, its effect on Fgfr3 protein function is unknown.
G637W missense loss of function - predicted FGFR3 G637W lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). G637W results in a loss of Fgfr3 kinase activity in cell culture (PMID: 26992226), and therefore, is predicted to result in a loss of Fgfr3 protein function.
G65R missense unknown FGFR3 G65R lies within the Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). G65R has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
G697C missense no effect FGFR3 G697C lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). G697C demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3, and is not transforming in cell culture (PMID: 26992226).
G710D missense unknown FGFR3 G710D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). G710D has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
H274Y missense no effect - predicted FGFR3 H274Y lies within the Ig-like C2 type domain 3 of the Fgfr3 protein (UniProt.org). H274Y has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
H349Y missense unknown FGFR3 H349Y lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). H349Y has been identified in the scientific literature (PMID: 29656465), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
H643D missense no effect FGFR3 H643D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). H643D demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
I376C missense unknown FGFR3 I376C lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). I376C has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
I538F missense no effect FGFR3 I538F lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). I538F demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
I538V missense gain of function - predicted FGFR3 I538V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). I538V results in increased Fgfr3 autophosphorylation in cell culture (PMID: 26992226), and therefore, is predicted to result in a gain of Fgfr3 protein function.
inact mut unknown loss of function FGFR3 inact mut indicates that this variant results in a loss of function of the Fgfr3 protein. However, the specific amino acid change has not been identified.
K319del deletion no effect - predicted FGFR3 K319del results in the deletion of an amino acid in the Fgfr3 protein at amino acid 319 (UniProt.org). K319del has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
K413N missense unknown FGFR3 K413N lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). K413N has been identified in the scientific literature (PMID: 25056374), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
K508M missense loss of function FGFR3 K508M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K508M confers a loss of function to the Fgfr3 protein as demonstrated by induction of growth arrest in cell culture and inactivation of Stat1 in vitro (PMID: 19088846) and loss of kinase activity in the context of Fgfr3-Tacc3 (PMID: 22837387).
K650E missense gain of function FGFR3 K650E lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650E confers a gain of function on the Fgfr3 protein, as demonstrated by constitutive activation (PMID: 11055896) and transformation of cells in culture, as compared to wild-type Fgfr3 (PMID: 11157491).
K650M missense gain of function FGFR3 K650M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650M confers a gain of function to the Fgfr3 protein as demonstrated by ligand-dependent autophosphorylation, activation of Mapk signaling (PMID: 9857065), and activation of Stat1 in kinase assays (PMID: 19088846).
K650N missense gain of function - predicted FGFR3 K650N lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650N results in constitutive activation of the Fgfr3 protein (PMID: 11055896), and therefore, is predicted to result in a gain of Fgfr3 protein function.
K650Q missense gain of function - predicted FGFR3 K650Q lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650Q results in increased autophosphorylation compared to wild-type Fgfr3 in culture (PMID: 11055896), and therefore, is predicted to result in a gain of Fgfr3 protein function.
K650T missense gain of function - predicted FGFR3 K650T lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650T results in constitutive activation of the Fgfr3 protein (PMID: 11055896), and therefore, is predicted to result in a gain of Fgfr3 protein function.
K652E missense gain of function - predicted FGFR3 K652E (corresponds to K649E in the canonical isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K652E was demonstrated to induce transformation of mouse fibroblasts, but had a lesser degree of signaling and phenotypic effect in immortalized normal human urothelial cells (PMID: 19749790) and therefore, is predicted to result in a gain of Fgfr3 protein function.
K715M missense unknown FGFR3 K715M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K715M has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
L385M missense unknown FGFR3 L385M lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). L385M has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
L608V missense unknown FGFR3 L608V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). L608V has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019). Y
L645V missense unknown FGFR3 L645V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). L645V has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
L794fs frameshift unknown FGFR3 L794fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 794 of 806, likely resulting in a premature truncation of the functional protein (UniProt.org). L794fs has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
L794R missense unknown FGFR3 L794R lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). L794R has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
M528I missense gain of function FGFR3 M528I lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). M528I results in both increased phosphorylation of Erk, Stat1, and Stat3, and autophosphorylation of Fgfr3 in culture (PMID: 25777271).
mutant unknown unknown FGFR3 mutant indicates an unspecified mutation in the FGFR3 gene.
N540K missense gain of function FGFR3 N540K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540K results in increased Fgfr3 autophosphorylation and substrate phosphorylation, and is transforming in cell culture (PMID: 26992226). Y
N540S missense gain of function - predicted FGFR3 N540S lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540S results in increased Fgfr3 autophosphorylation in cell culture (PMID: 26992226), and therefore, is predicted to result in a gain of Fgfr3 protein function.
N540T missense unknown FGFR3 N540T lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540T has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
N540V missense unknown FGFR3 N540V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540V has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
N653H missense no effect FGFR3 N653H lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N653H demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
over exp none no effect FGFR3 over exp indicates an over expression of the Fgfr3 protein. However, the mechanism causing the over expression is unspecified.
P253_I254insHIA insertion unknown FGFR3 P253_I254insHIA results in the insertion of three amino acids in the Ig-like C2-type domain 3 of the Fgfr3 protein between amino acids 253 and 254 (UniProt.org). P253_I254insHIA has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
P283S missense unknown FGFR3 P283S lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). P283S has been identified in sequencing studies (PMID: 27998968, PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
P402S missense no effect - predicted FGFR3 P402S does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). P420S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
P572A missense no effect FGFR3 P572A lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). P572A demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
P795A missense unknown FGFR3 P795A lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). P795A has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
P91L missense unknown FGFR3 P91L lies within the Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). P91L has been identified in the scientific literature (PMID: 26907448), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
positive unknown unknown FGFR3 positive indicates the presence of the ESR1 gene, mRNA, and/or protein.
Q209H missense unknown FGFR3 Q209H lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). Q209H has been identified in sequencing studies (PMID: 24292195), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
Q256R missense unknown FGFR3 Q256R lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). Q256R has been identified in sequencing studies (PMID: 28199989), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
R112Q missense unknown FGFR3 R112Q lies within the Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). R112Q has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
R124W missense gain of function - predicted FGFR3 R124W lies within the Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). R124W has not been biochemically characterized, but is predicted to confer a gain of function on the Fgfr3 protein as demonstrated by increased transformation ability in cell culture (PMID: 29533785).
R200C missense gain of function FGFR3 R200C lies within the Ig-like C2-type 2 domain of the Fgfr3 protein (UniProt.org). R200C confers a gain of function to the Fgfr3 protein resulting in dimerization and constitutive activation (PMID: 16912704).
R248C missense gain of function FGFR3 R248C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R248C confers a gain of function to the Fgfr3 protein as demonstrated by constitutive ligand-independent cell proliferation (PMID: 19381019) and increased activation of the Mapk signaling pathway (PMID: 24626198).
R248H missense unknown FGFR3 R248H lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R248H has been identified in the scientific literature (PMID: 24452392), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Aug 2019).
R399C missense no effect - predicted FGFR3 R399C lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R399C has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Fgfr3 in culture (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
R421Q missense unknown FGFR3 R421Q lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R421Q has been identified in sequencing studies (PMID: 27701467), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
R603Q missense unknown FGFR3 R603Q lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). R603Q has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
R640W missense unknown FGFR3 R640W lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). R640W has been identified in sequencing studies (PMID: 26517354), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
R669G missense gain of function FGFR3 R669G lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). R669G results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226).
R669Q missense gain of function - predicted FGFR3 R669Q lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). R669Q results in increased Fgfr3 autophosphorylation in cell culture (PMID: 26992226) and therefore, is predicted to result in a gain of Fgfr3 protein function.
R805Q missense no effect - predicted FGFR3 R805Q does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). R805Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
rearrange unknown unknown FGFR3 rearrangement indicates an unspecified rearrangement of the FGFR3 gene.
S131L missense unknown FGFR3 S131L lies within the extracellular domain of the Fgfr3 protein (UniProt.org). The functional effect of S131L is conflicting, as it results in decreased proliferation and cell viability compared to wild-type Fgfr3 in one study (PMID: 29533785), however, in another study, demonstrates increased cell proliferation under some cell culture conditions, and confers resistance to FGFR inhibitors in culture (PMID: 27053219), and therefore, its effect on Fgfr3 protein function is unknown. Y
S187Y missense no effect - predicted FGFR3 S187Y lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). S187Y has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
S249C missense gain of function FGFR3 S249C lies within the linker region between IgD2 and IgD3 of the Fgfr3 protein (PMID: 19381019). S249C confers a gain of function to the Fgfr3 protein as demonstrated by stabilized homodimer formation and constitutive phosphorylation in vitro (PMID: 17384684), constitutive ligand-independent cell proliferation in culture (PMID: 19381019, PMID: 29533785) and increased Akt signaling (PMID: 31316618). Y
S351C missense loss of function - predicted FGFR3 S351C lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). S351C has not been biochemically characterized, but is predicted to confer a loss of function on the Fgfr3 protein as demonstrated by decreased transformation ability in cell culture as compared to wild-type Fgfr3 (PMID: 29533785).
S371C missense gain of function FGFR3 S371C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). S371C confers a gain of function to the Fgfr3 protein, resulting in dimerization, constitutive activation, and increased MAPK pathway signaling (PMID: 12009017).
S400fs frameshift loss of function - predicted FGFR3 S400fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 400 of 806, likely resulting in a premature truncation of the functional protein (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), S400fs is predicted to lead to a loss of Fgfr3 protein function.
S433C missense unknown FGFR3 S433C lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). S433C has been identified in the scientific literature (PMID: 17344920), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
S679F missense unknown FGFR3 S679F lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S679F has been identified in sequencing studies (PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
S780C missense no effect - predicted FGFR3 S780C does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). S780C has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
T394M missense no effect - predicted FGFR3 T394M does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). T394M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
T79S missense unknown FGFR3 T79S lies within the Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). T79S has been identified in sequencing studies (PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
V172I missense loss of function - predicted FGFR3 V172I lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). V172I has not been biochemically characterized, but is predicted to confer a loss of function on the Fgfr3 protein as demonstrated by decreased transformation ability in cell culture as compared to wild-type Fgfr3 (PMID: 29533785).
V306I missense unknown FGFR3 V306I lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). V306I has been identified in the scientific literature (PMID: 23443805, PMID: 25384085), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
V329A missense unknown FGFR3 V329A lies within the Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). V329A has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
V390M missense no effect - predicted FGFR3 V390M does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). V390M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
V50I missense gain of function - predicted FGFR3 V50I lies within the Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). V50I has not been biochemically characterized, but is predicted to confer a gain of function on the Fgfr3 protein as demonstrated by increased transformation ability in cell culture (PMID: 29533785).
V555L missense unknown FGFR3 V555L lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555L has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown. Y
V555M missense gain of function FGFR3 V555M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555M results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226). Y
V630M missense no effect FGFR3 V630M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V630M demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
V642M missense no effect - predicted FGFR3 V642M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V642M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
V677I missense no effect FGFR3 V677I lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V677I demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
V700A missense unknown FGFR3 V700A lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V700A has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
V788M missense gain of function - predicted FGFR3 V788M does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). V788M has not been biochemically characterized, but is predicted to confer a gain of function on the Fgfr3 protein as demonstrated by increased transformation ability in cell culture (PMID: 29533785).
wild-type none no effect Wild-type FGFR3 indicates that no mutation has been detected within the FGFR3 gene.
Y241C missense unknown FGFR3 Y241C lies within the Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). Y241C has been identified in the scientific literature (PMID: 12835230), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
Y373C missense gain of function FGFR3 Y373C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). Y373C confers a gain of function to the Fgfr3 protein resulting in constitutive activation, downstream signaling, and transformation of cultured cells (PMID: 11429702, PMID: 11157491).
Y375C missense gain of function FGFR3 Y375C (corresponds to Y373C in the canonical isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). Y375C confers a gain of function to the Fgfr3 protein as demonstrated by ligand-independent constitutive phosphorylation in vitro and transformation of cells in culture (PMID: 19749790). Y
Y379C missense unknown FGFR3 Y379C lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). Y379C has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2019).
Y647C missense gain of function - predicted FGFR3 Y647C lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). Y647C results in increased Fgfr3 autophosphorylation in cell culture (PMID: 26992226), and therefore, is predicted to result in a gain of Fgfr3 protein function.
ETV6 - FGFR3 fusion gain of function ETV6-FGFR3 results from the fusion of ETV6 (also referred to as TEL) and FGFR3 (PMID: 15514005), demonstrating constitutive kinase activity and the ability to transform cells in culture (PMID: 15514005).