Entrez Gene

Basic Information
Gene ID	4312
Name	MMP1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.757A>T; p.I253F; 11:102795476-102795476	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.796C>T; p.P266S; 11:102795277-102795277	skin	malignant_melanoma	Substitution - Missense
c.38G>A; p.W13*; 11:102798055-102798055	skin	malignant_melanoma	Substitution - Nonsense
c.1218T>C; p.S406S; 11:102790785-102790785	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.948C>T; p.F316F; 11:102792690-102792690	skin	malignant_melanoma	Substitution - coding silent
c.1204G>A; p.E402K; 11:102790799-102790799	skin	malignant_melanoma	Substitution - Missense
c.1234C>T; p.P412S; 11:102790769-102790769	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1234C>T; p.P412S; 11:102790769-102790769	skin	malignant_melanoma	Substitution - Missense
c.6C>T; p.H2H; 11:102798087-102798087	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.852T>C; p.F284F; 11:102795221-102795221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.640C>A; p.R214S; 11:102795593-102795593	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1297G>T; p.D433Y; 11:102790706-102790706	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>G; p.P371R; 11:102791417-102791417	breast	carcinoma	Substitution - Missense
c.485C>A; p.S162Y; 11:102797028-102797028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541C>A; p.L181I; 11:102796748-102796748	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.856_860delGCTAT; p.A286fs*11; 11:102795213-102795217	liver	carcinoma	Deletion - Frameshift
c.402T>A; p.I134I; 11:102797111-102797111	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.235C>T; p.P79S; 11:102797371-102797371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1131C>T; p.I377I; 11:102791398-102791398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1131C>T; p.I377I; 11:102791398-102791398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.508G>A; p.D170N; 11:102796781-102796781	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.930G>A; p.P310P; 11:102792708-102792708	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.930G>A; p.P310P; 11:102792708-102792708	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.287A>T; p.D96V; 11:102797319-102797319	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.V312I; 11:102792704-102792704	pancreas	carcinoma	Substitution - Missense
c.210C>A; p.F70L; 11:102797396-102797396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.V312I; 11:102792704-102792704	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.210C>A; p.F70L; 11:102797396-102797396	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.740A>T; p.Q247L; 11:102795493-102795493	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1101delC; p.F368fs*7; 11:102791428-102791428	skin; sole	malignant_melanoma; acral_lentiginous	Deletion - Frameshift
c.670C>T; p.L224F; 11:102795563-102795563	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.988G>T; p.A330S; 11:102792650-102792650	breast	carcinoma	Substitution - Missense
c.988G>T; p.A330S; 11:102792650-102792650	breast	carcinoma	Substitution - Missense
c.640C>T; p.R214C; 11:102795593-102795593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.404A>C; p.E135A; 11:102797109-102797109	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1010G>T; p.R337I; 11:102792628-102792628	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1159G>A; p.G387R; 11:102791370-102791370	skin	malignant_melanoma	Substitution - Missense
c.626-1G>A; p.?; 11:102795608-102795608	skin; scalp	carcinoma; squamous_cell_carcinoma	Unknown
c.1353G>A; p.T451T; 11:102790469-102790469	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.521T>C; p.F174S; 11:102796768-102796768	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.583G>A; p.A195T; 11:102796706-102796706	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1034G>A; p.G345E; 11:102791495-102791495	skin	malignant_melanoma	Substitution - Missense
c.1034G>A; p.G345E; 11:102791495-102791495	skin	malignant_melanoma	Substitution - Missense
c.937G>C; p.E313Q; 11:102792701-102792701	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.115G>A; p.E39K; 11:102797491-102797491	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.220A>G; p.K74E; 11:102797386-102797386	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.66G>A; p.A22A; 11:102798027-102798027	skin	malignant_melanoma	Substitution - coding silent
c.548A>G; p.H183R; 11:102796741-102796741	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.992C>A; p.A331D; 11:102792646-102792646	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1160G>A; p.G387E; 11:102791369-102791369	skin	malignant_melanoma	Substitution - Missense
c.1074C>T; p.H358H; 11:102791455-102791455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.269_270CC>GA; p.P90R; 11:102797336-102797337	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.830C>T; p.A277V; 11:102795243-102795243	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.830C>T; p.A277V; 11:102795243-102795243	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.855T>A; p.D285E; 11:102795218-102795218	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.855T>A; p.D285E; 11:102795218-102795218	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1140T>G; p.A380A; 11:102791389-102791389	liver	carcinoma	Substitution - coding silent
c.1197-1G>A; p.?; 11:102790807-102790807	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.1235C>T; p.P412L; 11:102790768-102790768	skin	malignant_melanoma	Substitution - Missense
c.1140T>G; p.A380A; 11:102791389-102791389	liver	carcinoma	Substitution - coding silent
c.210C>T; p.F70F; 11:102797396-102797396	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.541C>T; p.L181F; 11:102796748-102796748	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.415C>T; p.Q139*; 11:102797098-102797098	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Nonsense
c.1097G>A; p.S366N; 11:102791432-102791432	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>A; p.E333K; 11:102792641-102792641	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.997G>A; p.E333K; 11:102792641-102792641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1290C>T; p.F430F; 11:102790713-102790713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.631A>T; p.N211Y; 11:102795602-102795602	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1338A>C; p.K446N; 11:102790484-102790484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1033+6C>T; p.?; 11:102792599-102792599	pancreas	carcinoma	Unknown
c.871C>T; p.R291W; 11:102795202-102795202	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.871C>T; p.R291W; 11:102795202-102795202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.871C>T; p.R291W; 11:102795202-102795202	pancreas	carcinoma	Substitution - Missense
c.523G>T; p.D175Y; 11:102796766-102796766	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.448A>T; p.T150S; 11:102797065-102797065	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.557A>C; p.Q186P; 11:102796732-102796732	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.19_21delCTG; p.L11delL; 11:102798072-102798074	ovary	carcinoma	Deletion - In frame
c.607T>G; p.W203G; 11:102796682-102796682	breast	carcinoma	Substitution - Missense
c.729T>G; p.S243R; 11:102795504-102795504	pancreas	carcinoma	Substitution - Missense
c.821C>T; p.T274I; 11:102795252-102795252	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.174_175delCC; p.P59fs*3; 11:102797431-102797432	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.647C>T; p.A216V; 11:102795586-102795586	stomach	adenocarcinoma	Substitution - Missense
c.1006G>A; p.D336N; 11:102792632-102792632	urinary_tract; bladder	carcinoma	Substitution - Missense
c.556C>T; p.Q186*; 11:102796733-102796733	skin	malignant_melanoma	Substitution - Nonsense
c.764G>A; p.G255D; 11:102795469-102795469	skin; axilla	malignant_melanoma	Substitution - Missense
c.403G>C; p.E135Q; 11:102797110-102797110	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.219G>C; p.L73L; 11:102797387-102797387	skin	malignant_melanoma	Substitution - coding silent
c.857C>T; p.A286V; 11:102795216-102795216	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1314C>T; p.F438F; 11:102790508-102790508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.931G>A; p.E311K; 11:102792707-102792707	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.931G>A; p.E311K; 11:102792707-102792707	skin	malignant_melanoma	Substitution - Missense
c.1242G>A; p.M414I; 11:102790761-102790761	skin	malignant_melanoma	Substitution - Missense
c.1004C>A; p.A335D; 11:102792634-102792634	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.627G>A; p.E209E; 11:102795606-102795606	central_nervous_system; brain	glioma	Substitution - coding silent
c.1106G>A; p.G369D; 11:102791423-102791423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1062G>C; p.Q354H; 11:102791467-102791467	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1117A>T; p.T373S; 11:102791412-102791412	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1078T>C; p.Y360H; 11:102791451-102791451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1301G>A; p.G434E; 11:102790521-102790521	skin	malignant_melanoma	Substitution - Missense
c.1301G>A; p.G434E; 11:102790521-102790521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.415C>A; p.Q139K; 11:102797098-102797098	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.888C>A; p.F296L; 11:102795185-102795185	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.888C>A; p.F296L; 11:102795185-102795185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1262G>A; p.G421E; 11:102790741-102790741	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1147G>A; p.E383K; 11:102791382-102791382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.536G>A; p.G179E; 11:102796753-102796753	skin	malignant_melanoma	Substitution - Missense
c.536G>A; p.G179E; 11:102796753-102796753	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.257T>G; p.V86G; 11:102797349-102797349	breast	carcinoma	Substitution - Missense
c.536G>A; p.G179E; 11:102796753-102796753	skin	malignant_melanoma	Substitution - Missense
c.215G>A; p.G72E; 11:102797391-102797391	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.961T>C; p.W321R; 11:102792677-102792677	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1196+1G>C; p.?; 11:102791332-102791332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Unknown
c.1363T>G; p.L455V; 11:102790459-102790459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1363T>G; p.L455V; 11:102790459-102790459	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.317A>T; p.N106I; 11:102797289-102797289	skin	malignant_melanoma	Substitution - Missense
c.345C>A; p.T115T; 11:102797261-102797261	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.485C>T; p.S162F; 11:102797028-102797028	skin	malignant_melanoma	Substitution - Missense
c.641G>A; p.R214H; 11:102795592-102795592	prostate	carcinoma	Substitution - Missense
c.572delT; p.I191fs*45; 11:102796717-102796717	breast	carcinoma	Deletion - Frameshift
c.647C>G; p.A216G; 11:102795586-102795586	ovary	other; neoplasm	Substitution - Missense
c.1087G>A; p.D363N; 11:102791442-102791442	skin	malignant_melanoma	Substitution - Missense
c.857C>A; p.A286D; 11:102795216-102795216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.351G>A; p.R117R; 11:102797162-102797162	skin; abdomen	malignant_melanoma	Substitution - coding silent

The somatic mutations from COSMIC database