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Gene Symbol FGFR1
Synonyms bFGF-R-1 | BFGFR | CD331 | CEK | ECCL | FGFBR | FGFR-1 | FLG | FLT-2 | FLT2 | HBGFR | HH2 | HRTFDS | KAL2 | N-SAM | OGD
Gene Description FGFR1, fibroblast growth factor receptor 1, 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 Fgfr1 may lead to increased cell proliferation and decreased apoptosis (PMID: 22508544) and amplification and/or overexpression has been identified in colorectal cancer (PMID: 30181810), gastric cancer (PMID: 29976636), and breast cancer (PMID: 30119151).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A121D missense no effect - predicted FGFR1 A121D lies within the extracellular domain of the Fgfr1 protein (UniProt.org). A121D results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
A21T missense no effect - predicted FGFR1 A21T lies within the signal peptide region of the Fgfr1 protein (UniProt.org). A21T results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
A263V missense no effect FGFR1 A263V lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). A263V demonstrates phosphorylation levels similar to wild-type Fgfr1 and is not transforming in culture (PMID: 26826182) and therefore, has no effect on Fgfr1 protein function.
A268S missense no effect - predicted FGFR1 A268S lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). A268S results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
A431S missense unknown FGFR1 A431S lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). A431S has been identified in sequencing studies (PMID: 12738854), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
A604T missense loss of function - predicted FGFR1 A604T lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). A604T results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
A626V missense unknown FGFR1 A626V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). A626V has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2021).
A645V missense loss of function FGFR1 A645V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). A645V results in a loss of function of the Fgfr1 protein as demonstrated by decreased Erk activation and c-Fos expression and elevated autophagy in cell culture (PMID: 30787447).
act mut unknown gain of function FGFR1 act mut indicates that this variant results in a gain of function in the Fgfr1 protein. However, the specific amino acid change has not been identified.
amp none no effect FGFR1 amplification indicates an increased number of copies of the FGFR1 gene. However, the mechanism causing the increase is unspecified.
C178S missense gain of function - predicted FGFR1 C178S lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). C178S demonstrates constitutive activation of the Fgfr1 dimer state in vitro (PMID: 27596331), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
C379R missense gain of function FGFR1 C379R (corresponds to C381R in the canonical isoform) lies within the transmembrane domain of the Fgfr1 protein (PMID: 26272615). C379R results in a gain of function, as demonstrated by constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615).
C381R missense gain of function - predicted FGFR1 C381R lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). C381R is associated with increased phospho-Erk1/2 staining in a patient tumor sample (PMID: 30385747), and the corresponding variant in an alternate isoform (C379R) demonstrates constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615), and therefore, is predicted to result in a gain of Fgfr1 function.
C381Y missense no effect - predicted FGFR1 C381Y lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). C381Y has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr1 protein function.
D128N missense no effect - predicted FGFR1 D128N lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D128N results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
D128V missense unknown FGFR1 D128V lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D128V results in altered proliferation relative to wild-type Fgfr1 in a competition assay, but results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
D128Y missense unknown FGFR1 D128Y lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D128Y has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
D133dup duplication unknown FGFR1 D133dup indicates the insertion of the duplicate amino acid, aspartic acid (D)-133, in the extracellular domain of the Fgfr1 protein (UniProt.org). D133dup has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jul 2021).
D133E missense unknown FGFR1 D133E lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D133E has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
D133N missense no effect - predicted FGFR1 D133N lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D133N results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
D165_D166del deletion unknown FGFR1 D165_D166del (corresponds to D132_D133del in the canonical isoform) results in the deletion of two amino acids in the extracellular domain of the Fgfr1 protein from amino acids 165 to 166 (UniProt.org). D165_D166del has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
D166del deletion unknown FGFR1 D166del (corresponds to D133del in the canonical isoform) results in the deletion of an amino acid in the extracellular domain of the Fgfr1 protein at amino acid 166 (UniProt.org). D166del has been identified in the scientific literature (PMID: 30239046, PMID: 29030356), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
D320N missense unknown FGFR1 D320N lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). D320N results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
D652G missense unknown FGFR1 D652G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). D652G has been identified in sequencing studies (PMID: 26920151, PMID: 32059187), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
D90V missense no effect - predicted FGFR1 D90V lies within the Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). D90V has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
dec exp none no effect FGFR1 dec exp indicates decreased expression of the Fgfr1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E138* nonsense unknown FGFR1 E138* results in a premature truncation of the Fgfr1 protein at amino acid 138 of 822 (UniProt.org). E138* results in a loss of multiple functional domains (UniProt.org), but also results in similar cell proliferation and viability compared to wild-type Fgfr1 in culture (PMID: 29533785), and therefore, its effect on Fgfr1 protein function is unknown.
E334Q missense unknown FGFR1 E334Q lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). E334Q has been identified in sequencing studies (PMID: 25056374), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
E360K missense no effect - predicted FGFR1 E360K lies within the extracellular domain of the Fgfr1 protein (UniProt.org). E360K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
E467K missense no effect - predicted FGFR1 E467K lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). E467K results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
E592G missense no effect - predicted FGFR1 E592G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). E592G results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
E670G missense unknown FGFR1 E670G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). E670G has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
FGFR1 - ADAM18 fusion unknown FGFR1-ADAM18 results from the fusion of FGFR1 and ADAM18 (PMID: 25500544). FGFR1-ADAM18 has been identified in breast cancer (PMID: 25500544), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Aug 2021).
FGFR1 - ADGRA2 fusion unknown FGFR1-ADGRA2 results from the fusion of FGFR1 and ADGRA2. FGFR1-ADGRA2 has not been characterized in the scientific literature and therefore, the effect on protein function is unknown (PubMed, Aug 2021).
FGFR1 - CSMD1 fusion unknown FGFR1-CSMD1 results from the fusion of FGFR1 and CSMD1 (PMID: 29617662). FGFR1-CSMD1 has been identified in breast cancer (PMID: 29617662), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Aug 2021).
FGFR1 - ERC1 fusion unknown FGFR1-ERC1 results from the fusion of FGFR1 and ERC1 (PMID: 33020650). FGFR1-ERC1 has been identified in high-grade gliomas (PMID: 33020650), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2021).
FGFR1 - ERLIN2 fusion unknown FGFR1-ERLIN2 results from the fusion of FGFR1 and ERLIN2 (PMID: 32928922). FGFR1-ERLIN2 has been identified in adenosquamous carcinoma of the pancreas (PMID: 32928922), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2021).
FGFR1 - PLAG1 fusion unknown FGFR1-PLAG1 results from the fusion of FGFR1 and PLAG1 (PMID: 29084941). FGFR1-PLAG1 has been identified in myoepithelial carcinoma and is associated with increased Plag1 expression in patient samples (PMID: 29084941), but has not been fully biochemically characterized and therefore, the effect on protein function is unknown (PubMed, May 2021).
FGFR1 - TACC1 fusion gain of function FGFR1-TACC1 results from the fusion of FGFR1 and TACC1, demonstrating transforming ability in culture, tumor growth in xenografts, and increased errors in chromosomal segregation (PMID: 22837387).
fusion fusion unknown FGFR1 fusion indicates a fusion of the FGFR1 gene, but the fusion partner is unknown.
G610D missense unknown FGFR1 G610D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G610D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
G687R missense unknown FGFR1 G687R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G687R has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2021).
G687V missense unknown FGFR1 G687V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G687V has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
G703S missense unknown FGFR1 G703S lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G703S results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
G70R missense unknown FGFR1 G70R lies within the Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). G70R has been identified in the scientific literature (PMID: 27581340), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
H717N missense unknown FGFR1 H717N lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). H717N has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2021).
I544V missense gain of function - predicted FGFR1 I544V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). I544V demonstrates increased kinase activity compared to wild-type Fgfr1 in an in vitro assay (PMID: 28166054), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
inact mut unknown loss of function FGFR1 inact mut indicates that this variant results in a loss of function of the Fgfr1 protein. However, the specific amino acid change has not been identified.
K291E missense no effect - predicted FGFR1 K291E lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). K291E has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
K517R missense unknown FGFR1 K517R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K517R has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
K598N missense unknown FGFR1 K598N lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K598N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
K655I missense unknown FGFR1 K655I lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K655I has been identified in sequencing studies (PMID: 23817572, PMID: 30825062), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
K656* nonsense loss of function - predicted FGFR1 K656* results in a premature truncation of the Fgfr1 protein at amino acid 656 of 822 (UniProt.org). K656* results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
K656D missense unknown FGFR1 K656D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K656D has been identified in the scientific literature (PMID: 26920151, PMID: 24750136, PMID: 23817572), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
K656E missense gain of function FGFR1 K656E lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). K656E does not confer a growth advantage in a competition assay but confers a gain of function to the Fgfr1 protein as demonstrated by constitutive activation of MAPK signaling (PMID: 23817572), and is transforming in cultured cells (PMID: 23817572, PMID: 34272467).
K656M missense gain of function - predicted FGFR1 K656M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K656M results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
K656N missense unknown FGFR1 K656N lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K656N has been identified in sequencing studies (PMID: 30143858, PMID: 24750136, PMID: 23817572), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
K687E missense unknown FGFR1 K687E (corresponds to K656E in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M563I has been identified in the scientific literature (PMID: 32622884), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
L122F missense no effect - predicted FGFR1 L122F lies within the extracellular domain of the Fgfr1 protein (UniProt.org). L122F has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
L484M missense unknown FGFR1 L484M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L484M has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2021).
L573M missense unknown FGFR1 L573M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L573M has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Apr 2021).
L614V missense gain of function - predicted FGFR1 L614V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L614V demonstrates increased kinase activity compared to wild-type Fgfr1 in an in vitro assay (PMID: 28166054), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
M456I missense unknown FGFR1 M456I lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). M456I has been identified in sequencing studies (PMID: 27320919, PMID: 27127140), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
M456V missense no effect - predicted FGFR1 M456V lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). M456V results in transformatio activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
M563I missense unknown FGFR1 M563I (corresponds to M532I in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M563I has been identified in the scientific literature (PMID: 32622884), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
mutant unknown unknown FGFR1 mutant indicates an unspecified mutation in the FGFR1 gene.
N193fs frameshift loss of function - predicted FGFR1 N193fs results in a change in the amino acid sequence of the Fgfr1 protein beginning at aa 193 of 822, likely resulting in premature truncation of the functional protein (UniProt.org). N193fs results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
N330I missense unknown FGFR1 N330I lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). N330I has been identified in sequencing studies (PMID: 30385747, PMID: 15625620), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
N546D missense unknown FGFR1 N546D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). N546D has been identified in the scientific literature (PMID: 32622884), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
N546K missense gain of function FGFR1 N546K lies within the protein kinase domain of the Fgfr1 protein (UniProt.org, PMID: 26179511). N546K does not confer a growth advantage in a competition assay (PMID: 34272467) but increases protein kinase activity, and is transforming in cultured cells (PMID: 26179511, PMID: 23817572, PMID: 29533785).
over exp none no effect FGFR1 over exp indicates an over expression of the FGFR1 protein. However, the mechanism causing the over expression is unspecified.
P123S missense no effect - predicted FGFR1 P123S lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P123S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
P150S missense unknown FGFR1 P150S lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P150S results in altered proliferation relative to wild-type Fgfr1 in a competition assay, but results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
P252R missense unknown FGFR1 P252R lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P252R has been identified in the scientific literature (PMID: 23880303), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
P252S missense gain of function - predicted FGFR1 P252S lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P252S results in altered ligand specificity and increased ligand affinity (PMID: 18056464), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
P252T missense gain of function - predicted FGFR1 P252T lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P252T results in altered ligand specificity and increased ligand affinity (PMID: 18056464), and therefore, is predicted to lead to gain of Fgfr1 protein function.
P277L missense unknown FGFR1 P277L (corresponds to P366L in the canonical isoform) lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). P277L has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Apr 2021).
P366L missense unknown FGFR1 P366L lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P366L has not been characterized and therefore its effect on Fgfr1 protein function is unknown (PubMed, Apr 2021).
P483L missense no effect - predicted FGFR1 P483L lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). P483L results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
P772L missense no effect - predicted FGFR1 P772L lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). P772L has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
P772S missense no effect - predicted FGFR1 P772S lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). P772S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
positive unknown unknown FGFR1 positive indicates the presence of the FGFR1 gene, mRNA, and/or protein.
Q309* nonsense loss of function - predicted FGFR1 Q309* results in a premature truncation of the Fgfr1 protein at amino acid 309 of 822 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Q309* is predicted to lead to a loss of Fgfr1 protein function.
R120H missense unknown FGFR1 R120H (corresponds to R209H in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). R120H has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Apr 2021).
R189C missense unknown FGFR1 R189C lies within the Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R189C results in an increased growth advantage in a competition assay but transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
R189H missense unknown FGFR1 R189H lies within the Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R189H has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
R209H missense no effect - predicted FGFR1 R209H lies within the extracellular domain of the Fgfr1 protein (UniProt.org). R209H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
R250Q missense loss of function FGFR1 R250Q lies within the linker D2-D3 region of the Fgfr1 protein (PMID: 23276709). R250Q confers a loss of function to the Fgfr1, as demonstrated by disrupted ligand binding (PMID: 23276709, PMID: 19820032).
R250W missense unknown FGFR1 R250W lies within the D2-D3 linker region of the Fgfr1 protein (PMID: 23276709). R250W results in similar cell proliferation and viability levels to wild-type Fgfr1 in two different cell lines in culture in one study (PMID: 29533785), decreased proliferation relative to wild-type Fgfr1 in a competition assay, and transformation activity similar to wild-type Fgfr1 in another study (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
R424C missense no effect - predicted FGFR1 R424C lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R424C has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
R445W missense unknown FGFR1 R445W lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R445W results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 in culture (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
R475Q missense no effect - predicted FGFR1 R475Q lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R475Q results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
R507H missense unknown FGFR1 R507H lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R507H has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
R576W missense unknown FGFR1 R576W lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R576W has been identified in sequencing studies (PMID: 16186508, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2021).
R646L missense unknown FGFR1 R646L lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R646L has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
R646W missense loss of function - predicted FGFR1 R646W lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R646W results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
R78H missense unknown FGFR1 R78H lies within the Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). R78H has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, May 2021).
R809Q missense unknown FGFR1 R809Q lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R809Q results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
R822C missense no effect - predicted FGFR1 R822C lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R822C has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
rearrange unknown unknown FGFR1 rearrangement indicates an unspecified rearrangement of the FGFR1 gene.
S125L missense no effect - predicted FGFR1 S125L lies within the extracellular domain of the Fgfr1 protein (UniProt.org). S125L results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
S135F missense unknown FGFR1 S135F lies within the extracellular domain of the Fgfr1 protein (UniProt.org). S135F has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
S238N missense no effect - predicted FGFR1 S238N lies within the Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). S238N results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
S430F missense unknown FGFR1 S430F lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). S430F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2021).
S436F missense loss of function - predicted FGFR1 S436F lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). S436F results in proliferation similar to wild-type in a competition assay but decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
S588T missense no effect - predicted FGFR1 S588T lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). S588T results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
T141R missense no effect - predicted FGFR1 T141R lies within the extracellular domain of the Fgfr1 protein (UniProt.org). T141R results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
T26I missense no effect - predicted FGFR1 T26I lies within the Ig-like C2-type 1 domain of the Fgfr1 protein (UniProt.org). T26I results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
T319A missense loss of function - predicted FGFR1 T319A lies within the Ig-like C2-type 3 domain of the Fgfr1 protein (UniProt.org). T319A results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
T340M missense no effect - predicted FGFR1 T340M lies within the Ig-like C2-type 3 domain of the Fgfr1 protein (UniProt.org). T340M results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
T370A missense no effect - predicted FGFR1 T370A lies within the extracellular domain of the Fgfr1 protein (UniProt.org). T370A has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
T658P missense unknown FGFR1 T658P lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). T658P has been identified in the scientific literature (PMID: 27608415, PMID: 23817572), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2021).
T695A missense gain of function - predicted FGFR1 T695A lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). T695A has not been biochemically characterized, but is predicted to confer a gain of function on the Fgfr1 protein as demonstrated by increased transformation ability in one of two different cell lines as compared to wild-type Fgfr1 (PMID: 29533785).
V102I missense unknown FGFR1 V102I lies within the Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). V102I results in reduced transcriptional activity as compared to wild-type Fgfr1 in a reporter assay (PMID: 23657145), however, acts similar to wild-type human Fgfr1 protein in a zebrafish rescue assay (PMID: 26931467), and therefore, its effect on Fgfr1 protein function is unknown.
V273M missense no effect - predicted FGFR1 V273M lies within the extracellular domain of the Fgfr1 protein (UniProt.org). V273M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
V444A missense unknown FGFR1 V444A lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). V444A has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, May 2021).
V460A missense no effect - predicted FGFR1 V460A lies within the extracellular domain of the Fgfr1 protein (UniProt.org). V460A has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
V561M missense gain of function FGFR1 V561M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V561M results in increased Fgfr1 autophosphorylation and has been shown to be associated with resistance to tyrosine kinase inhibitors (PMID: 25686244, PMID: 15157880, PMID: 28646488), and leads to increased Stat3 phosphorylation and STAT3-dependent gene expression, elevated expression of mesenchymal genes, and increased cell proliferation, migration, and anchorage-independent growth in culture (PMID: 30257990). Y
V664L missense loss of function - predicted FGFR1 V664L lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V664L results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
V751A missense loss of function - predicted FGFR1 V751A lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V751A results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
W666R missense unknown FGFR1 W666R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). W666R has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2021).
W684G missense unknown FGFR1 W684G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). W684G has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2021).
wild-type none no effect Wild-type FGFR1 indicates that no mutation has been detected within the FGFR1 gene.
Y307N missense no effect - predicted FGFR1 Y307N lies within the Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). Y307N has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
Y372C missense gain of function - predicted FGFR1 Y372C (corresponds to Y374C in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). Y372C results in increased basal and ligand induced Fgfr1 activity in a luciferace assay (PMID: 15625620), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
Y374C missense gain of function - predicted FGFR1 Y374C lies within the extracellular domain of the Fgfr1 protein (UniProt.org). Y374C is predicted to confer a gain of function to Fgfr1, as the corresponding variant in an alternate isoform (Y372C) results in increased activity in cell culture (PMID: 15625620).