Entrez Gene

Basic Information
Gene ID	4311
Name	MME
Synonymous	membrane metallo-endopeptidase;MME;membrane metallo-endopeptidase
Definition	atriopeptidase\|common acute lymphocytic leukemia antigen\|enkephalinase\|membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase)\|membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)\|membrane metallo-endopeptidase
Position	3q25.2
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.08.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2247T>C; p.V749V; 3:155180453-155180453	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1164G>T; p.K388N; 3:155142306-155142306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1712A>C; p.N571T; 3:155166953-155166953	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1440C>T; p.I480I; 3:155147167-155147167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1893G>A; p.W631*; 3:155168604-155168604	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1915-1G>A; p.?; 3:155168731-155168731	skin	malignant_melanoma	Unknown
c.1524C>T; p.F508F; 3:155148576-155148576	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1099C>A; p.L367I; 3:155142241-155142241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.907A>G; p.M303V; 3:155140242-155140242	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216C>T; p.S739L; 3:155180422-155180422	skin	malignant_melanoma	Substitution - Missense
c.1602-1G>T; p.?; 3:155160389-155160389	lung	carcinoma; adenocarcinoma	Unknown
c.573G>A; p.L191L; 3:155116905-155116905	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1184G>A; p.R395H; 3:155142326-155142326	prostate	carcinoma	Substitution - Missense
c.1184G>A; p.R395H; 3:155142326-155142326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.381T>A; p.T127T; 3:155116501-155116501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1272G>A; p.G424G; 3:155143526-155143526	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1781G>T; p.G594V; 3:155168492-155168492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.679C>T; p.P227S; 3:155118770-155118770	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1075C>A; p.L359I; 3:155142108-155142108	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.850G>T; p.A284S; 3:155138231-155138231	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.971T>A; p.L324*; 3:155142004-155142004	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.885T>G; p.D295E; 3:155140220-155140220	liver	carcinoma	Substitution - Missense
c.1516G>T; p.E506*; 3:155148568-155148568	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.645T>C; p.H215H; 3:155116977-155116977	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.2243G>A; p.R748Q; 3:155180449-155180449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.645T>C; p.H215H; 3:155116977-155116977	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.645T>C; p.H215H; 3:155116977-155116977	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.1388C>A; p.A463D; 3:155144429-155144429	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1178C>A; p.A393D; 3:155142320-155142320	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.303C>G; p.S101R; 3:155115100-155115100	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1686C>T; p.P562P; 3:155166927-155166927	skin	malignant_melanoma	Substitution - coding silent
c.909G>A; p.M303I; 3:155140244-155140244	prostate	adenoma	Substitution - Missense
c.612T>C; p.F204F; 3:155116944-155116944	skin	malignant_melanoma	Substitution - coding silent
c.2061C>T; p.F687F; 3:155172197-155172197	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.348C>T; p.V116V; 3:155115145-155115145	skin	malignant_melanoma	Substitution - coding silent
c.2024delT; p.P676fs*5; 3:155172160-155172160	bone; femur	chondrosarcoma	Deletion - Frameshift
c.1605G>A; p.W535*; 3:155160393-155160393	skin	malignant_melanoma	Substitution - Nonsense
c.1095-1G>A; p.?; 3:155142236-155142236	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.286G>A; p.V96I; 3:155115083-155115083	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.653A>C; p.H218P; 3:155116985-155116985	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1466A>G; p.N489S; 3:155147193-155147193	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.667C>T; p.R223*; 3:155118758-155118758	skin	malignant_melanoma	Substitution - Nonsense
c.1318G>A; p.V440I; 3:155144359-155144359	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2044C>T; p.H682Y; 3:155172180-155172180	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.87_88CA>AG; p.S30G; 3:155084254-155084255	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.362T>C; p.V121A; 3:155116482-155116482	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2110G>T; p.V704F; 3:155172569-155172569	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.362T>C; p.V121A; 3:155116482-155116482	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1124T>G; p.F375C; 3:155142266-155142266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.736G>A; p.V246M; 3:155138117-155138117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1590G>T; p.V530V; 3:155148642-155148642	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2230G>C; p.E744Q; 3:155180436-155180436	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.160+1G>A; p.?; 3:155084328-155084328	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1700C>T; p.A567V; 3:155166941-155166941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.844G>A; p.E282K; 3:155138225-155138225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1684delC; p.F564fs*10; 3:155166925-155166925	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1809C>T; p.L603L; 3:155168520-155168520	skin	malignant_melanoma	Substitution - coding silent
c.831_832GG>AA; p.M277_E278>IK; 3:155138212-155138213	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.197-2A>T; p.?; 3:155114992-155114992	kidney	other; neoplasm	Unknown
c.93C>A; p.L31L; 3:155084260-155084260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1228C>T; p.R410C; 3:155143482-155143482	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1228C>T; p.R410C; 3:155143482-155143482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1362T>C; p.T454T; 3:155144403-155144403	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1096G>T; p.D366Y; 3:155142238-155142238	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>G; p.F321L; 3:155141996-155141996	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.167T>A; p.I56N; 3:155085065-155085065	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.385G>C; p.D129H; 3:155116505-155116505	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.294C>T; p.P98P; 3:155115091-155115091	oesophagus	carcinoma	Substitution - coding silent
c.1857C>T; p.S619S; 3:155168568-155168568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.878G>A; p.R293Q; 3:155140213-155140213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.878G>A; p.R293Q; 3:155140213-155140213	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.433A>C; p.N145H; 3:155116553-155116553	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.691T>G; p.Y231D; 3:155118782-155118782	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.761G>C; p.R254T; 3:155138142-155138142	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.152delC; p.Y52fs*12; 3:155084319-155084319	lung	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1390G>C; p.E464Q; 3:155144431-155144431	breast	carcinoma	Substitution - Missense
c.1447C>G; p.P483A; 3:155147174-155147174	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.668G>A; p.R223Q; 3:155118759-155118759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1165G>A; p.E389K; 3:155142307-155142307	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.997A>T; p.T333S; 3:155142030-155142030	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.56A>T; p.K19M; 3:155084223-155084223	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.589A>G; p.K197E; 3:155116921-155116921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2118C>T; p.S706S; 3:155172577-155172577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.589A>G; p.K197E; 3:155116921-155116921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2016A>C; p.E672D; 3:155172152-155172152	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1804G>C; p.D602H; 3:155168515-155168515	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1320C>A; p.V440V; 3:155144361-155144361	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.358+1G>A; p.?; 3:155115156-155115156	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.912A>G; p.T304T; 3:155140247-155140247	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2144G>C; p.G715A; 3:155172603-155172603	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.958C>G; p.P320A; 3:155141991-155141991	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1607T>C; p.I536T; 3:155160395-155160395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1751A>G; p.H584R; 3:155166992-155166992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.654+1G>A; p.?; 3:155116987-155116987	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.426T>G; p.S142S; 3:155116546-155116546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1154G>A; p.R385Q; 3:155142296-155142296	skin	malignant_melanoma	Substitution - Missense
c.1154G>A; p.R385Q; 3:155142296-155142296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.109C>T; p.L37F; 3:155084276-155084276	skin	malignant_melanoma	Substitution - Missense
c.985G>A; p.E329K; 3:155142018-155142018	skin	malignant_melanoma	Substitution - Missense
c.985G>A; p.E329K; 3:155142018-155142018	skin	malignant_melanoma	Substitution - Missense
c.309T>C; p.R103R; 3:155115106-155115106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1545G>A; p.L515L; 3:155148597-155148597	skin	malignant_melanoma	Substitution - coding silent
c.1309A>G; p.K437E; 3:155143563-155143563	skin	malignant_melanoma	Substitution - Missense
c.1357C>G; p.Q453E; 3:155144398-155144398	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1147C>A; p.L383I; 3:155142289-155142289	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.769C>T; p.R257C; 3:155138150-155138150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.769C>T; p.R257C; 3:155138150-155138150	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1753G>A; p.E585K; 3:155166994-155166994	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1753G>A; p.E585K; 3:155166994-155166994	prostate	carcinoma	Substitution - Missense
c.1838G>A; p.S613N; 3:155168549-155168549	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1363T>A; p.L455I; 3:155144404-155144404	pancreas	carcinoma	Substitution - Missense
c.334G>C; p.D112H; 3:155115131-155115131	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.934T>C; p.F312L; 3:155140269-155140269	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.264C>A; p.C88*; 3:155115061-155115061	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.739G>T; p.D247Y; 3:155138120-155138120	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1781-3T>G; p.?; 3:155168489-155168489	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.739G>T; p.D247Y; 3:155138120-155138120	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>T; p.D247Y; 3:155138120-155138120	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1558A>C; p.S520R; 3:155148610-155148610	skin	malignant_melanoma	Substitution - Missense
c.412G>A; p.A138T; 3:155116532-155116532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952G>T; p.G318W; 3:155140287-155140287	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.851C>G; p.A284G; 3:155138232-155138232	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.196+2T>A; p.?; 3:155085096-155085096	ovary	other; neoplasm	Unknown
c.1317G>T; p.V439V; 3:155143571-155143571	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.402G>C; p.Q134H; 3:155116522-155116522	urinary_tract; bladder	carcinoma	Substitution - Missense
c.402G>C; p.Q134H; 3:155116522-155116522	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.308G>A; p.R103H; 3:155115105-155115105	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.308G>A; p.R103H; 3:155115105-155115105	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.308G>A; p.R103H; 3:155115105-155115105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1131G>T; p.M377I; 3:155142273-155142273	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1726G>T; p.G576W; 3:155166967-155166967	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1944C>T; p.N648N; 3:155168761-155168761	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1944C>T; p.N648N; 3:155168761-155168761	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1944C>T; p.N648N; 3:155168761-155168761	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.157G>A; p.D53N; 3:155084324-155084324	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>T; p.L31F; 3:155084258-155084258	skin	malignant_melanoma	Substitution - Missense
c.1146C>A; p.S382R; 3:155142288-155142288	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1889C>T; p.S630F; 3:155168600-155168600	skin	malignant_melanoma	Substitution - Missense
c.1771G>A; p.D591N; 3:155167012-155167012	pancreas	carcinoma	Substitution - Missense
c.1771G>A; p.D591N; 3:155167012-155167012	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.814G>A; p.E272K; 3:155138195-155138195	skin	malignant_melanoma	Substitution - Missense
c.814G>A; p.E272K; 3:155138195-155138195	skin	malignant_melanoma	Substitution - Missense
c.1423G>A; p.A475T; 3:155147150-155147150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1771G>A; p.D591N; 3:155167012-155167012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1538A>G; p.Q513R; 3:155148590-155148590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.288C>G; p.V96V; 3:155115085-155115085	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.844G>T; p.E282*; 3:155138225-155138225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.838G>A; p.E280K; 3:155138219-155138219	skin	malignant_melanoma	Substitution - Missense
c.831G>A; p.M277I; 3:155138212-155138212	skin	malignant_melanoma	Substitution - Missense
c.414A>G; p.A138A; 3:155116534-155116534	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.838G>A; p.E280K; 3:155138219-155138219	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2020T>G; p.L674V; 3:155172156-155172156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1802G>A; p.G601E; 3:155168513-155168513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.361G>A; p.V121I; 3:155116481-155116481	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.34G>A; p.D12N; 3:155084201-155084201	skin	malignant_melanoma	Substitution - Missense
c.506T>A; p.V169E; 3:155116730-155116730	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.930T>C; p.N310N; 3:155140265-155140265	breast	carcinoma	Substitution - coding silent
c.318C>A; p.N106K; 3:155115115-155115115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.862G>A; p.A288T; 3:155140197-155140197	skin	malignant_melanoma	Substitution - Missense
c.1076T>G; p.L359R; 3:155142109-155142109	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.921G>T; p.Q307H; 3:155140256-155140256	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.824A>C; p.K275T; 3:155138205-155138205	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>A; p.E233K; 3:155118788-155118788	skin	malignant_melanoma	Substitution - Missense
c.2014G>C; p.E672Q; 3:155172150-155172150	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>T; p.P357L; 3:155142103-155142103	skin	malignant_melanoma	Substitution - Missense
c.2010C>T; p.G670G; 3:155172146-155172146	breast	carcinoma	Substitution - coding silent
c.623A>G; p.D208G; 3:155116955-155116955	liver	carcinoma	Substitution - Missense
c.623A>G; p.D208G; 3:155116955-155116955	liver	carcinoma	Substitution - Missense
c.972G>T; p.L324F; 3:155142005-155142005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1914C>T; p.H638H; 3:155168625-155168625	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.268G>T; p.G90C; 3:155115065-155115065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1780+2T>A; p.?; 3:155167023-155167023	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.67C>T; p.R23*; 3:155084234-155084234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.67C>T; p.R23*; 3:155084234-155084234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2102A>T; p.E701V; 3:155172561-155172561	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.67C>T; p.R23*; 3:155084234-155084234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1771G>T; p.D591Y; 3:155167012-155167012	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.112C>A; p.L38I; 3:155084279-155084279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>G; p.V199V; 3:155116929-155116929	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.68G>A; p.R23Q; 3:155084235-155084235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1305G>A; p.E435E; 3:155143559-155143559	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.884A>T; p.D295V; 3:155140219-155140219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1761C>T; p.T587T; 3:155167002-155167002	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.776A>T; p.E259V; 3:155138157-155138157	skin	malignant_melanoma	Substitution - Missense
c.1090G>A; p.A364T; 3:155142123-155142123	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.553G>A; p.E185K; 3:155116885-155116885	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1390G>A; p.E464K; 3:155144431-155144431	liver	carcinoma	Substitution - Missense
c.1390G>A; p.E464K; 3:155144431-155144431	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1125C>T; p.F375F; 3:155142267-155142267	skin	malignant_melanoma	Substitution - coding silent
c.224C>T; p.A75V; 3:155115021-155115021	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1287A>G; p.E429E; 3:155143541-155143541	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1765G>T; p.G589C; 3:155167006-155167006	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2235G>A; p.K745K; 3:155180441-155180441	skin	malignant_melanoma	Substitution - coding silent
c.1000G>T; p.V334L; 3:155142033-155142033	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5G>A; p.G2D; 3:155084172-155084172	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.720+9delA; p.?; 3:155118820-155118820	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.427T>C; p.C143R; 3:155116547-155116547	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.427T>C; p.C143R; 3:155116547-155116547	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>A; p.G577S; 3:155166970-155166970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1856C>G; p.S619C; 3:155168567-155168567	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1343G>T; p.R448L; 3:155144384-155144384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1671C>A; p.A557A; 3:155166912-155166912	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2172G>A; p.Q724Q; 3:155180378-155180378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.610T>C; p.F204L; 3:155116942-155116942	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1683G>T; p.Q561H; 3:155166924-155166924	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829A>G; p.M277V; 3:155138210-155138210	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.308G>T; p.R103L; 3:155115105-155115105	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1905T>G; p.G635G; 3:155168616-155168616	breast	carcinoma	Substitution - coding silent
c.138C>T; p.I46I; 3:155084305-155084305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.934T>G; p.F312V; 3:155140269-155140269	liver	carcinoma	Substitution - Missense
c.934T>G; p.F312V; 3:155140269-155140269	liver	carcinoma	Substitution - Missense
c.934T>G; p.F312V; 3:155140269-155140269	liver	carcinoma	Substitution - Missense
c.2025T>A; p.L675L; 3:155172161-155172161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1914+1G>A; p.?; 3:155168626-155168626	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1816T>G; p.W606G; 3:155168527-155168527	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.139G>A; p.A47T; 3:155084306-155084306	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1320C>T; p.V440V; 3:155144361-155144361	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1312C>T; p.H438Y; 3:155143566-155143566	liver	carcinoma	Substitution - Missense
c.908T>C; p.M303T; 3:155140243-155140243	liver	carcinoma	Substitution - Missense
c.1320C>T; p.V440V; 3:155144361-155144361	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1312C>T; p.H438Y; 3:155143566-155143566	liver	carcinoma	Substitution - Missense
c.1312C>T; p.H438Y; 3:155143566-155143566	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.76C>T; p.P26S; 3:155084243-155084243	skin	malignant_melanoma	Substitution - Missense
c.1320C>T; p.V440V; 3:155144361-155144361	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1320C>T; p.V440V; 3:155144361-155144361	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.908T>C; p.M303T; 3:155140243-155140243	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.281G>A; p.R94H; 3:155115078-155115078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661-7C>T; p.?; 3:155166895-155166895	skin; leg	malignant_melanoma	Unknown
c.1661-7C>T; p.?; 3:155166895-155166895	skin; leg	malignant_melanoma	Unknown
c.1276C>T; p.L426F; 3:155143530-155143530	skin	malignant_melanoma	Substitution - Missense
c.1541A>C; p.N514T; 3:155148593-155148593	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1276C>T; p.L426F; 3:155143530-155143530	skin	malignant_melanoma	Substitution - Missense
c.6C>A; p.G2G; 3:155084173-155084173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.280C>T; p.R94C; 3:155115077-155115077	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1447C>T; p.P483S; 3:155147174-155147174	skin	malignant_melanoma	Substitution - Missense
c.354G>A; p.L118L; 3:155115151-155115151	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.280C>T; p.R94C; 3:155115077-155115077	oesophagus	carcinoma	Substitution - Missense
c.280C>T; p.R94C; 3:155115077-155115077	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1623A>G; p.V541V; 3:155160411-155160411	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.819G>C; p.M273I; 3:155138200-155138200	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1999A>T; p.K667*; 3:155172135-155172135	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.514G>A; p.E172K; 3:155116738-155116738	skin	malignant_melanoma	Substitution - Missense
c.346G>T; p.V116F; 3:155115143-155115143	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.346G>T; p.V116F; 3:155115143-155115143	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.346G>T; p.V116F; 3:155115143-155115143	large_intestine; colon	carcinoma	Substitution - Missense
c.346G>T; p.V116F; 3:155115143-155115143	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1921G>A; p.G641R; 3:155168738-155168738	skin	malignant_melanoma	Substitution - Missense
c.1113G>A; p.M371I; 3:155142255-155142255	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.312C>T; p.Y104Y; 3:155115109-155115109	pancreas	carcinoma	Substitution - coding silent
c.312C>T; p.Y104Y; 3:155115109-155115109	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1541A>T; p.N514I; 3:155148593-155148593	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.182A>T; p.D61V; 3:155085080-155085080	liver	carcinoma	Substitution - Missense
c.2211G>A; p.K737K; 3:155180417-155180417	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.723T>A; p.A241A; 3:155138104-155138104	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.219G>A; p.M73I; 3:155115016-155115016	skin	malignant_melanoma	Substitution - Missense
c.1781-1G>A; p.?; 3:155168491-155168491	liver	carcinoma	Unknown
c.488A>G; p.D163G; 3:155116712-155116712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1781-1G>A; p.?; 3:155168491-155168491	liver	carcinoma	Unknown
c.958C>T; p.P320S; 3:155141991-155141991	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.156C>T; p.Y52Y; 3:155084323-155084323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.521G>A; p.W174*; 3:155116745-155116745	skin	malignant_melanoma	Substitution - Nonsense
c.578C>A; p.S193Y; 3:155116910-155116910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1890C>T; p.S630S; 3:155168601-155168601	skin	malignant_melanoma	Substitution - coding silent
c.1640C>A; p.S547Y; 3:155160428-155160428	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.82G>A; p.E28K; 3:155084249-155084249	skin	malignant_melanoma	Substitution - Missense
c.1250G>A; p.G417E; 3:155143504-155143504	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.870T>C; p.P290P; 3:155140205-155140205	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.376A>G; p.K126E; 3:155116496-155116496	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.971T>C; p.L324S; 3:155142004-155142004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.856G>A; p.A286T; 3:155140191-155140191	skin	malignant_melanoma	Substitution - Missense
c.856G>A; p.A286T; 3:155140191-155140191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]