| Gene ID | 1524 |
| Symbol | CX3CR1 |
| Synonymous | CCRL1|CMKBRL1|CMKDR1|GPR13|GPRV28|V28 |
| Full name | chemokine (C-X3-C motif) receptor 1 |
| Gene description | C-X3-C CKR-1|CMK-BRL-1|CMK-BRL1|CX3C chemokine receptor 1|G protein-coupled receptor 13|G-protein coupled receptor 13|beta chemokine receptor-like 1|chemokine (C-C) receptor-like 1|chemokine (C-X3-C) receptor 1|fractalkine receptor |
| Cytoband | 3p21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:601470; HGNC:HGNC:2558; Ensembl:ENSG00000168329; HPRD:03277; Vega:OTTHUMG00000156249 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.927G>A; p.G309G; 3:39265583-39265583 |
skin | malignant_melanoma | Substitution - coding silent |
c.675G>T; p.K225N; 3:39265835-39265835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.639A>C; p.R213S; 3:39265871-39265871 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.D67N; 3:39266311-39266311 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.840G>T; p.T280T; 3:39265670-39265670 |
stomach | adenocarcinoma | Substitution - coding silent |
c.1038G>C; p.T346T; 3:39265472-39265472 |
liver | carcinoma | Substitution - coding silent |
c.1038G>C; p.T346T; 3:39265472-39265472 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.28G>T; p.E10*; 3:39266482-39266482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.450C>T; p.S150S; 3:39266060-39266060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.42C>G; p.Y14*; 3:39266468-39266468 |
liver | carcinoma | Substitution - Nonsense |
c.42C>G; p.Y14*; 3:39266468-39266468 |
liver | carcinoma | Substitution - Nonsense |
c.1052C>T; p.A351V; 3:39265458-39265458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.161T>C; p.F54S; 3:39266349-39266349 |
pancreas | carcinoma | Substitution - Missense |
c.1052C>T; p.A351V; 3:39265458-39265458 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.553G>T; p.E185*; 3:39265957-39265957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.73G>A; p.D25N; 3:39266437-39266437 |
skin | malignant_melanoma | Substitution - Missense |
c.143G>A; p.G48E; 3:39266367-39266367 |
skin | malignant_melanoma | Substitution - Missense |
c.248C>T; p.T83I; 3:39266262-39266262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034A>G; p.H345R; 3:39265476-39265476 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.212T>C; p.L71P; 3:39266298-39266298 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.651G>A; p.T217T; 3:39265859-39265859 |
liver | carcinoma | Substitution - coding silent |
c.659C>T; p.S220F; 3:39265851-39265851 |
skin | malignant_melanoma | Substitution - Missense |
c.651G>A; p.T217T; 3:39265859-39265859 |
liver | carcinoma | Substitution - coding silent |
c.787C>T; p.P263S; 3:39265723-39265723 |
skin | malignant_melanoma | Substitution - Missense |
c.37G>A; p.E13K; 3:39266473-39266473 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.180G>A; p.K60K; 3:39266330-39266330 |
skin | malignant_melanoma | Substitution - coding silent |
c.497T>C; p.M166T; 3:39266013-39266013 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.510G>C; p.Q170H; 3:39266000-39266000 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.210C>T; p.L70L; 3:39266300-39266300 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.839C>T; p.T280M; 3:39265671-39265671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>T; p.D126Y; 3:39266134-39266134 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.54T>C; p.A18A; 3:39266456-39266456 |
prostate | carcinoma | Substitution - coding silent |
c.929A>T; p.K310I; 3:39265581-39265581 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.99C>T; p.F33F; 3:39266411-39266411 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.312C>A; p.F104L; 3:39266198-39266198 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.334G>A; p.G112S; 3:39266176-39266176 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034A>T; p.H345L; 3:39265476-39265476 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>A; p.E279K; 3:39265675-39265675 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.457G>A; p.V153I; 3:39266053-39266053 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.650C>T; p.T217M; 3:39265860-39265860 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.650C>T; p.T217M; 3:39265860-39265860 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.764C>T; p.T255M; 3:39265746-39265746 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.650C>T; p.T217M; 3:39265860-39265860 |
pancreas | carcinoma | Substitution - Missense |
c.650C>T; p.T217M; 3:39265860-39265860 |
pancreas | carcinoma | Substitution - Missense |
c.600C>T; p.F200F; 3:39265910-39265910 |
skin | malignant_melanoma | Substitution - coding silent |
c.750G>A; p.M250I; 3:39265760-39265760 |
skin | malignant_melanoma | Substitution - Missense |
c.689T>A; p.I230N; 3:39265821-39265821 |
skin | malignant_melanoma | Substitution - Missense |
c.393C>T; p.I131I; 3:39266117-39266117 |
skin | malignant_melanoma | Substitution - coding silent |
c.393C>T; p.I131I; 3:39266117-39266117 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.472_473delAT; p.I158fs*16; 3:39266037-39266038 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.570C>T; p.L190L; 3:39265940-39265940 |
skin | malignant_melanoma | Substitution - coding silent |
c.840G>A; p.T280T; 3:39265670-39265670 |
skin | malignant_melanoma | Substitution - coding silent |
c.835G>C; p.E279Q; 3:39265675-39265675 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.758T>A; p.L253Q; 3:39265752-39265752 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>C; p.E279Q; 3:39265675-39265675 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.253C>T; p.P85S; 3:39266257-39266257 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.723C>T; p.F241F; 3:39265787-39265787 |
skin | malignant_melanoma | Substitution - coding silent |
c.43G>A; p.D15N; 3:39266467-39266467 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.43G>A; p.D15N; 3:39266467-39266467 |
skin | malignant_melanoma | Substitution - Missense |
c.43G>A; p.D15N; 3:39266467-39266467 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.43G>A; p.D15N; 3:39266467-39266467 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.43G>A; p.D15N; 3:39266467-39266467 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.927G>C; p.G309G; 3:39265583-39265583 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.403G>A; p.A135T; 3:39266107-39266107 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.136C>A; p.L46M; 3:39266374-39266374 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.344G>A; p.G115E; 3:39266166-39266166 |
skin | malignant_melanoma | Substitution - Missense |
c.876C>G; p.I292M; 3:39265634-39265634 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.651G>T; p.T217T; 3:39265859-39265859 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.176G>A; p.S59N; 3:39266334-39266334 |
skin | malignant_melanoma | Substitution - Missense |
c.714C>T; p.I238I; 3:39265796-39265796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.714C>T; p.I238I; 3:39265796-39265796 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.714C>T; p.I238I; 3:39265796-39265796 |
skin | malignant_melanoma | Substitution - coding silent |
c.714C>T; p.I238I; 3:39265796-39265796 |
skin | malignant_melanoma | Substitution - coding silent |
c.714C>T; p.I238I; 3:39265796-39265796 |
skin | malignant_melanoma | Substitution - coding silent |
c.714C>T; p.I238I; 3:39265796-39265796 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.596G>C; p.G199A; 3:39265914-39265914 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.183G>A; p.K61K; 3:39266327-39266327 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756C>T; p.F252F; 3:39265754-39265754 |
skin | malignant_melanoma | Substitution - coding silent |
c.486A>T; p.A162A; 3:39266024-39266024 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.10T>G; p.F4V; 3:39266500-39266500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.78C>A; p.I26I; 3:39266432-39266432 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.330C>T; p.F110F; 3:39266180-39266180 |
skin | malignant_melanoma | Substitution - coding silent |
c.171C>T; p.T57T; 3:39266339-39266339 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.601C>T; p.L201L; 3:39265909-39265909 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1A>G; p.M1V; 3:39266509-39266509 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.42C>T; p.Y14Y; 3:39266468-39266468 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.42C>T; p.Y14Y; 3:39266468-39266468 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.390C>A; p.A130A; 3:39266120-39266120 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.295A>T; p.N99Y; 3:39266215-39266215 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1004_1005delGA; p.G335fs*13; 3:39265505-39265506 |
breast | carcinoma | Deletion - Frameshift |
c.554A>C; p.E185A; 3:39265956-39265956 |
skin | malignant_melanoma | Substitution - Missense |
c.925G>T; p.G309W; 3:39265585-39265585 |
skin | malignant_melanoma | Substitution - Missense |
c.258C>T; p.F86F; 3:39266252-39266252 |
skin | malignant_melanoma | Substitution - coding silent |
c.452T>C; p.L151P; 3:39266058-39266058 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.327C>T; p.F109F; 3:39266183-39266183 |
skin | malignant_melanoma | Substitution - coding silent |
c.481G>A; p.A161T; 3:39266029-39266029 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>C; p.D67H; 3:39266311-39266311 |
breast | carcinoma | Substitution - Missense |
c.999G>A; p.R333R; 3:39265511-39265511 |
skin | malignant_melanoma | Substitution - coding silent |
c.736C>T; p.P246S; 3:39265774-39265774 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.831G>A; p.V277V; 3:39265679-39265679 |
skin | malignant_melanoma | Substitution - coding silent |
c.553G>A; p.E185K; 3:39265957-39265957 |
skin | malignant_melanoma | Substitution - Missense |
c.455G>T; p.G152V; 3:39266055-39266055 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.273G>A; p.L91L; 3:39266237-39266237 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.869C>T; p.P290L; 3:39265641-39265641 |
skin | malignant_melanoma | Substitution - Missense |
c.451C>G; p.L151V; 3:39266059-39266059 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.869C>T; p.P290L; 3:39265641-39265641 |
skin | malignant_melanoma | Substitution - Missense |
c.953G>A; p.R318H; 3:39265557-39265557 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.244G>A; p.A82T; 3:39266266-39266266 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517A>G; p.N173D; 3:39265993-39265993 |
skin | malignant_melanoma | Substitution - Missense |
c.78C>T; p.I26I; 3:39266432-39266432 |
skin | malignant_melanoma | Substitution - coding silent |
c.414G>A; p.M138I; 3:39266096-39266096 |
skin | malignant_melanoma | Substitution - Missense |
c.354C>T; p.F118F; 3:39266156-39266156 |
skin | malignant_melanoma | Substitution - coding silent |
c.696G>A; p.L232L; 3:39265814-39265814 |
skin | malignant_melanoma | Substitution - coding silent |
c.813G>A; p.L271L; 3:39265697-39265697 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.608C>T; p.P203L; 3:39265902-39265902 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.813G>A; p.L271L; 3:39265697-39265697 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.137T>C; p.L46P; 3:39266373-39266373 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.974C>T; p.S325F; 3:39265536-39265536 |
skin | malignant_melanoma | Substitution - Missense |
c.565G>A; p.V189M; 3:39265945-39265945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.565G>A; p.V189M; 3:39265945-39265945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.419A>G; p.N140S; 3:39266091-39266091 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.841G>T; p.V281F; 3:39265669-39265669 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.565G>A; p.V189M; 3:39265945-39265945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |