Entrez Gene

Basic Information
Gene ID	7852
Name	CXCR4
Synonymous	chemokine (C-X-C motif) receptor 4;CXCR4;chemokine (C-X-C motif) receptor 4
Definition	C-X-C chemokine receptor type 4\|CD184 antigen\|LPS-associated protein 3\|SDF-1 receptor\|fusin\|leukocyte-derived seven transmembrane domain receptor\|lipopolysaccharide-associated protein 3\|neuropeptide Y receptor Y3\|seven transmembrane helix receptor\|seven-t
Position	2q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.616C>A; p.Q206K; 2:136115324-136115324	breast	carcinoma	Substitution - Missense
c.444T>A; p.S148R; 2:136115496-136115496	breast	carcinoma	Substitution - Missense
c.385C>T; p.L129F; 2:136115555-136115555	breast	carcinoma	Substitution - Missense
c.210G>A; p.Q70Q; 2:136115730-136115730	breast	carcinoma	Substitution - coding silent
c.1040A>G; p.E347G; 2:136114900-136114900	central_nervous_system; brain	glioma	Substitution - Missense
c.649A>G; p.I217V; 2:136115291-136115291	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.88G>A; p.E30K; 2:136115852-136115852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.459G>A; p.K153K; 2:136115481-136115481	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.873C>T; p.T291T; 2:136115067-136115067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.881T>A; p.L294Q; 2:136115059-136115059	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.888_889delCT; p.F297fs*17; 2:136115051-136115052	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.888_889delCT; p.F297fs*17; 2:136115051-136115052	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Deletion - Frameshift
c.27G>C; p.Q9H; 2:136115913-136115913	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.46T>C; p.Y16H; 2:136115894-136115894	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.426C>T; p.I142I; 2:136115514-136115514	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.129C>A; p.I43I; 2:136115811-136115811	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.740T>C; p.I247T; 2:136115200-136115200	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.326G>C; p.G109A; 2:136115614-136115614	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.997C>A; p.L333I; 2:136114943-136114943	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.478G>A; p.V160I; 2:136115462-136115462	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.795C>T; p.I265I; 2:136115145-136115145	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.723C>T; p.A241A; 2:136115217-136115217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.350A>G; p.H117R; 2:136115590-136115590	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>A; p.D185N; 2:136115387-136115387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.522C>T; p.P174P; 2:136115418-136115418	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.390C>T; p.I130I; 2:136115550-136115550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.957C>T; p.H319H; 2:136114983-136114983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.239A>G; p.Y80C; 2:136115701-136115701	large_intestine; colon	carcinoma	Substitution - Missense
c.239A>G; p.Y80C; 2:136115701-136115701	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.715C>T; p.R239C; 2:136115225-136115225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1002C>A; p.S334S; 2:136114938-136114938	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.67G>T; p.G23W; 2:136115873-136115873	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>T; p.R338*; 2:136114928-136114928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.348C>T; p.V116V; 2:136115592-136115592	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.426C>T; p.I142I; 2:136115514-136115514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.520C>A; p.P174T; 2:136115420-136115420	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.480C>A; p.V160V; 2:136115460-136115460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.101G>A; p.R34H; 2:136115839-136115839	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.413G>T; p.R138L; 2:136115527-136115527	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.455G>A; p.R152K; 2:136115485-136115485	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>C; p.E281Q; 2:136115099-136115099	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.84G>A; p.M28I; 2:136115856-136115856	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.413G>A; p.R138H; 2:136115527-136115527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.129C>G; p.I43M; 2:136115811-136115811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.791G>T; p.S264I; 2:136115149-136115149	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.854A>G; p.H285R; 2:136115086-136115086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1045G>C; p.E349Q; 2:136114895-136114895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1045G>C; p.E349Q; 2:136114895-136114895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.231G>A; p.T77T; 2:136115709-136115709	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.250C>T; p.L84L; 2:136115690-136115690	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.475G>A; p.V159M; 2:136115465-136115465	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239A>G; p.Y80C; 2:136115701-136115701	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.193C>A; p.L65M; 2:136115747-136115747	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.469G>A; p.E157K; 2:136115471-136115471	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.87G>A; p.K29K; 2:136115853-136115853	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.355delA; p.I119fs*53; 2:136115585-136115585	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1001C>G; p.S334C; 2:136114939-136114939	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.138C>T; p.P46P; 2:136115802-136115802	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.492C>G; p.V164V; 2:136115448-136115448	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.195G>A; p.L65L; 2:136115745-136115745	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.979G>T; p.G327W; 2:136114961-136114961	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.958G>A; p.A320T; 2:136114982-136114982	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.201G>T; p.M67I; 2:136115739-136115739	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.S343F; 2:136114912-136114912	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.121A>T; p.N41Y; 2:136115819-136115819	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.294G>T; p.W98C; 2:136115646-136115646	pancreas	carcinoma	Substitution - Missense
c.294G>T; p.W98C; 2:136115646-136115646	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1007G>A; p.G336E; 2:136114933-136114933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.236A>T; p.K79M; 2:136115704-136115704	skin	malignant_melanoma	Substitution - Missense
c.675T>A; p.I225I; 2:136115265-136115265	skin	malignant_melanoma	Substitution - coding silent
c.68G>A; p.G23E; 2:136115872-136115872	skin	malignant_melanoma	Substitution - Missense
c.678C>T; p.I226I; 2:136115262-136115262	skin	malignant_melanoma	Substitution - coding silent
c.132C>T; p.F44F; 2:136115808-136115808	skin	malignant_melanoma	Substitution - coding silent
c.747C>T; p.I249I; 2:136115193-136115193	skin	malignant_melanoma	Substitution - coding silent
c.181G>A; p.G61R; 2:136115759-136115759	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.286C>T; p.P96S; 2:136115654-136115654	skin	malignant_melanoma	Substitution - Missense
c.38C>T; p.S13L; 2:136115902-136115902	skin	malignant_melanoma	Substitution - Missense
c.432C>T; p.H144H; 2:136115508-136115508	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.456G>A; p.R152R; 2:136115484-136115484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.732C>T; p.T244T; 2:136115208-136115208	skin	malignant_melanoma	Substitution - coding silent
c.287C>T; p.P96L; 2:136115653-136115653	skin; scalp	malignant_melanoma	Substitution - Missense
c.913C>A; p.L305I; 2:136115027-136115027	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1039G>A; p.E347K; 2:136114901-136114901	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.738C>T; p.V246V; 2:136115202-136115202	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.652G>T; p.V218F; 2:136115288-136115288	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.426C>T; p.I142I; 2:136115514-136115514	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.296C>T; p.A99V; 2:136115644-136115644	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.560G>A; p.R187K; 2:136115380-136115380	urinary_tract; bladder	carcinoma	Substitution - Missense
c.946T>G; p.S316A; 2:136114994-136114994	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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