| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2260 |
Name | FGFR1 |
Synonymous | BFGFR|CD331|CEK|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|KAL2|N-SAM|OGD|bFGF-R-1;fibroblast growth factor receptor 1;FGFR1;fibroblast growth factor receptor 1 |
Definition | FGFR1/PLAG1 fusion|FMS-like tyrosine kinase 2|basic fibroblast growth factor receptor 1|fms-related tyrosine kinase 2|heparin-binding growth factor receptor|hydroxyaryl-protein kinase|proto-oncogene c-Fgr |
Position | 8p12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for FGFR1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
FGFR1_N546K; chr8; 38274849 |
SUB; MISSENSE; G; G/T; SOMATIC | LGG; VALID; TARGETED_SEQUENCING |
FGFR1_V561M; chr8; 38273561 |
SUB; MISSENSE; C; C/T; SOMATIC | LGG; VALID; TARGETED_SEQUENCING |
FGFR1_N546K; chr8; 38274849 |
SUB; MISSENSE; G; G/C; SOMATIC | LGG; VALID; TARGETED_SEQUENCING |
FGFR1_N544K; chr8; 38274849 |
SUB; MISSENSE; G; G/T; SOMATIC | LGG; VALID; TARGETED_SEQUENCING |
FGFR1_E19_UTR_3; chr8; 38270622 |
SUB; UTR_3; A; A/G; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2245C>T; p.Q749*; |
large_intestine | carcinoma; adenocarcinoma |
c.1697A>G; p.K566R; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.422C>G; p.T141R; 8:38405047-38405047 |
lung | carcinoma; adenocarcinoma |
c.208G>A; p.G70R; 8:38406507-38406507 |
lung | carcinoma; adenocarcinoma |
c.?; p.T141R; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.2024G>A; p.R675Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1638C>A; p.N546K; 8:38394006-38394006 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1726C>T; p.R576W; 8:38392673-38392673 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.816C>T; p.N272N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1640T>C; p.L547P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1352C>G; p.S451C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2466_2469delCTGA; p.?; |
eye; uveal_tract | malignant_melanoma; spindle |
c.1794G>T; p.K598N; |
oesophagus | carcinoma; adenocarcinoma |
c.2107G>A; p.G703S; |
liver | carcinoma |
c.374C>T; p.S125L; 8:38405095-38405095 |
breast | carcinoma; ductal_carcinoma |
c.61G>A; p.A21T; |
liver | carcinoma |
c.1261A>G; p.I421V; |
stomach | carcinoma |
c.2004A>T; p.A668A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2399C>T; p.P800L; |
lung | carcinoma; adenocarcinoma |
c.762G>T; p.R254R; |
lung | carcinoma; adenocarcinoma |
c.925C>A; p.Q309K; |
lung | carcinoma; adenocarcinoma |
c.1638C>G; p.N546K; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1966A>G; p.K656E; 8:38391465-38391465 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.565C>T; p.R189C; |
prostate | carcinoma |
c.1185C>T; p.I395I; |
pancreas | carcinoma; ductal_carcinoma |
c.754C>A; p.P252T; 8:38401366-38401366 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.1990G>T; p.V664L; 8:38391292-38391292 |
lung | carcinoma; large_cell_carcinoma |
c.1990G>T; p.V664L; 8:38391292-38391292 |
lung | carcinoma; large_cell_carcinoma |
c.2091C>A; p.G697G; |
lung | carcinoma; small_cell_carcinoma |
c.1366A>G; p.M456V; |
lung | carcinoma; small_cell_carcinoma |
c.1638C>A; p.N546K; 8:38394006-38394006 |
autonomic_ganglia | neuroblastoma |
c.1298C>T; p.S433F; 8:38395035-38395035 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1966A>G; p.K656E; 8:38391465-38391465 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1966A>G; p.K656E; 8:38391465-38391465 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1939G>A; p.D647N; |
lung | carcinoma; adenocarcinoma |
c.944G>A; p.G315E; 8:38398609-38398609 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.944G>A; p.G315E; 8:38398609-38398609 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1380C>T; p.V460V; 8:38394953-38394953 |
ovary | carcinoma; serous_carcinoma |
c.1333C>T; p.R445W; |
lung | carcinoma; squamous_cell_carcinoma |
c.1113G>T; p.S371S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1563A>G; p.T521T; |
lung | carcinoma; adenocarcinoma |
c.2091C>T; p.G697G; |
lung | carcinoma; squamous_cell_carcinoma |
c.8G>T; p.S3I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.78C>A; p.T26T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1962T>A; p.Y654*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.30G>T; p.W10C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1613T>C; p.I538T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1333C>T; p.R445W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.448C>T; p.P150S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.60C>T; p.T20T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1289C>T; p.S430F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.448C>T; p.P150S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1680C>T; p.I560I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1071C>T; p.T357T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1829G>A; p.G610D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.303C>T; p.C101C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.177C>T; p.D59D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.454G>A; p.A152T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1952T>C; p.I651T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1809C>T; p.C603C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1145C>T; p.T382I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.51A>G; p.T17T; |
breast | carcinoma |
c.958G>A; p.D320N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.756T>C; p.P252P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1409G>C; p.R470P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2351G>A; p.R784Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.566G>A; p.R189H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2271C>T; p.I757I; |
breast | carcinoma |
c.816C>T; p.N272N; |
breast | carcinoma |
c.2452G>A; p.G818R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.74C>T; p.P25L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2033C>G; p.T678S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2139G>A; p.L713L; |
urinary_tract; bladder | carcinoma |
c.652G>A; p.D218N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.787G>T; p.A263S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.373T>C; p.S125P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421A>G; p.T141A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.945A>G; p.G315G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2383G>A; p.V795I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1637A>G; p.N546S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1885G>C; p.V629L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1113G>A; p.S371S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2222C>A; p.P741H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1298C>T; p.S433F; 8:38395035-38395035 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.423A>G; p.T141T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1494C>T; p.I498I; |
breast | carcinoma |
c.1992G>A; p.V664V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.375G>A; p.S125S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.374C>T; p.S125L; 8:38405095-38405095 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421A>G; p.T141A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.423A>G; p.T141T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421A>G; p.T141A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2076G>A; p.E692E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.578_579insA; p.N193fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421A>G; p.T141A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421A>G; p.T141A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.373T>C; p.S125P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1454G>C; p.G485A; |
urinary_tract; bladder | carcinoma |
c.397G>A; p.D133N; |
stomach | carcinoma |
c.68C>T; p.P23L; |
skin; neck | malignant_melanoma |