Entrez Gene

Basic Information
Gene ID	5104
Name	SERPINA5
Synonymous	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5;SERPINA5;serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
Definition	acrosomal serine protease inhibitor\|plasma serine protease inhibitor\|plasminogen activator inhibitor III\|plasminogen activator inhibitor-3\|protein C inhibitor\|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member
Position	14q32.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.76G>A; p.E26K; 14:94587438-94587438	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.343C>T; p.L115F; 14:94587705-94587705	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.149T>G; p.F50C; 14:94587511-94587511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.152A>G; p.D51G; 14:94587514-94587514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.164C>T; p.A55V; 14:94587526-94587526	skin	malignant_melanoma	Substitution - Missense
c.164C>T; p.A55V; 14:94587526-94587526	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.150T>C; p.F50F; 14:94587512-94587512	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.937C>T; p.Q313*; 14:94590795-94590795	skin	malignant_melanoma	Substitution - Nonsense
c.1029_1030GG>AA; p.V344M; 14:94590887-94590888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.826C>A; p.Q276K; 14:94590247-94590247	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.447G>A; p.M149I; 14:94587809-94587809	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.A38T; 14:94587474-94587474	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.78G>C; p.E26D; 14:94587440-94587440	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.12C>T; p.F4F; 14:94587374-94587374	skin	malignant_melanoma	Substitution - coding silent
c.12C>T; p.F4F; 14:94587374-94587374	skin	malignant_melanoma	Substitution - coding silent
c.94G>A; p.E32K; 14:94587456-94587456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.94G>A; p.E32K; 14:94587456-94587456	skin; trunk	malignant_melanoma	Substitution - Missense
c.151G>C; p.D51H; 14:94587513-94587513	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.818G>A; p.G273E; 14:94590239-94590239	skin	malignant_melanoma	Substitution - Missense
c.721C>T; p.Q241*; 14:94590142-94590142	skin	malignant_melanoma	Substitution - Nonsense
c.743G>A; p.R248Q; 14:94590164-94590164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.713G>A; p.R238H; 14:94590134-94590134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.583G>C; p.A195P; 14:94587945-94587945	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.185G>A; p.S62N; 14:94587547-94587547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.930C>A; p.G310G; 14:94590788-94590788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1088C>T; p.A363V; 14:94592106-94592106	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.97G>A; p.D33N; 14:94587459-94587459	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.198C>T; p.F66F; 14:94587560-94587560	skin	malignant_melanoma	Substitution - coding silent
c.100C>T; p.L34F; 14:94587462-94587462	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1185C>A; p.N395K; 14:94592203-94592203	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.653C>T; p.T218I; 14:94590074-94590074	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.784A>G; p.N262D; 14:94590205-94590205	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1173C>T; p.F391F; 14:94592191-94592191	thyroid	carcinoma	Substitution - coding silent
c.1004G>T; p.G335V; 14:94590862-94590862	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.943G>T; p.E315*; 14:94590801-94590801	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.588C>A; p.V196V; 14:94587950-94587950	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1198C>T; p.L400F; 14:94592216-94592216	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1198C>T; p.L400F; 14:94592216-94592216	skin	malignant_melanoma	Substitution - Missense
c.1157G>T; p.R386M; 14:94592175-94592175	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.198C>A; p.F66L; 14:94587560-94587560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.198C>A; p.F66L; 14:94587560-94587560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.114C>A; p.A38A; 14:94587476-94587476	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.64C>T; p.H22Y; 14:94587426-94587426	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.206C>A; p.P69H; 14:94587568-94587568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.932C>T; p.S311F; 14:94590790-94590790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1127G>A; p.R376H; 14:94592145-94592145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191G>A; p.S64N; 14:94587553-94587553	thyroid	other; neoplasm	Substitution - Missense
c.81G>T; p.M27I; 14:94587443-94587443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811A>G; p.S271G; 14:94590232-94590232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.119T>C; p.V40A; 14:94587481-94587481	liver	carcinoma	Substitution - Missense
c.119T>C; p.V40A; 14:94587481-94587481	liver	carcinoma	Substitution - Missense
c.718G>T; p.D240Y; 14:94590139-94590139	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.435C>T; p.F145F; 14:94587797-94587797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.435C>T; p.F145F; 14:94587797-94587797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.522T>G; p.D174E; 14:94587884-94587884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.274C>T; p.L92L; 14:94587636-94587636	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.752_753CC>TT; p.S251F; 14:94590173-94590174	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.170C>G; p.A57G; 14:94587532-94587532	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.195C>T; p.I65I; 14:94587557-94587557	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.195C>T; p.I65I; 14:94587557-94587557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.500G>A; p.G167E; 14:94587862-94587862	skin; extremity	malignant_melanoma	Substitution - Missense
c.254C>T; p.S85F; 14:94587616-94587616	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.322C>G; p.H108D; 14:94587684-94587684	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1049A>T; p.K350I; 14:94592067-94592067	breast	carcinoma	Substitution - Missense
c.204C>T; p.S68S; 14:94587566-94587566	skin	malignant_melanoma	Substitution - coding silent
c.51C>T; p.A17A; 14:94587413-94587413	skin	malignant_melanoma	Substitution - coding silent
c.175G>A; p.A59T; 14:94587537-94587537	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.733C>G; p.L245V; 14:94590154-94590154	skin	malignant_melanoma	Substitution - Missense
c.918C>A; p.F306L; 14:94590776-94590776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.630G>A; p.E210E; 14:94590051-94590051	skin	malignant_melanoma	Substitution - coding silent
c.860T>C; p.L287P; 14:94590281-94590281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1107A>G; p.I369M; 14:94592125-94592125	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.81G>A; p.M27I; 14:94587443-94587443	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.81G>A; p.M27I; 14:94587443-94587443	skin	malignant_melanoma	Substitution - Missense
c.1098G>A; p.T366T; 14:94592116-94592116	skin	malignant_melanoma	Substitution - coding silent
c.81G>A; p.M27I; 14:94587443-94587443	skin	malignant_melanoma	Substitution - Missense
c.81G>A; p.M27I; 14:94587443-94587443	skin	malignant_melanoma	Substitution - Missense
c.926A>G; p.E309G; 14:94590784-94590784	skin	malignant_melanoma	Substitution - Missense
c.942G>C; p.L314L; 14:94590800-94590800	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.216C>G; p.I72M; 14:94587578-94587578	breast	carcinoma	Substitution - Missense
c.616A>C; p.K206Q; 14:94587978-94587978	NS	malignant_melanoma	Substitution - Missense
c.78G>A; p.E26E; 14:94587440-94587440	skin	malignant_melanoma	Substitution - coding silent
c.1012A>G; p.N338D; 14:94590870-94590870	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.520G>A; p.D174N; 14:94587882-94587882	skin	malignant_melanoma	Substitution - Missense
c.1094_1095CC>TT; p.A365V; 14:94592112-94592113	skin	malignant_melanoma	Substitution - Missense
c.682G>A; p.E228K; 14:94590103-94590103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.965G>A; p.G322E; 14:94590823-94590823	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588C>T; p.V196V; 14:94587950-94587950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.116C>T; p.T39M; 14:94587478-94587478	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1029G>A; p.Q343Q; 14:94590887-94590887	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.981C>T; p.F327F; 14:94590839-94590839	skin	malignant_melanoma	Substitution - coding silent
c.203C>T; p.S68F; 14:94587565-94587565	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1161C>A; p.P387P; 14:94592179-94592179	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.540G>A; p.T180T; 14:94587902-94587902	skin	malignant_melanoma	Substitution - coding silent
c.161_162GG>TT; p.R54I; 14:94587523-94587524	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.540G>A; p.T180T; 14:94587902-94587902	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.540G>A; p.T180T; 14:94587902-94587902	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.791C>T; p.T264M; 14:94590212-94590212	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.791C>T; p.T264M; 14:94590212-94590212	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.313A>G; p.K105E; 14:94587675-94587675	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.308C>T; p.S103L; 14:94587670-94587670	skin; trunk	malignant_melanoma	Substitution - Missense
c.712C>A; p.R238S; 14:94590133-94590133	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.183C>A; p.P61P; 14:94587545-94587545	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.503C>A; p.A168D; 14:94587865-94587865	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1089G>A; p.A363A; 14:94592107-94592107	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1068C>T; p.D356D; 14:94592086-94592086	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1068C>T; p.D356D; 14:94592086-94592086	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1219delT; p.*407fs?; 14:94592237-94592237	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.970A>C; p.S324R; 14:94590828-94590828	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>A; p.L318L; 14:94590812-94590812	skin	malignant_melanoma	Substitution - coding silent
c.31C>T; p.L11F; 14:94587393-94587393	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1209G>A; p.V403V; 14:94592227-94592227	skin	malignant_melanoma	Substitution - coding silent
c.305G>A; p.S102N; 14:94587667-94587667	skin	malignant_melanoma	Substitution - Missense
c.573C>T; p.L191L; 14:94587935-94587935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.573C>T; p.L191L; 14:94587935-94587935	skin	malignant_melanoma	Substitution - coding silent
c.253T>C; p.S85P; 14:94587615-94587615	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.45G>T; p.Q15H; 14:94587407-94587407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.673G>A; p.V225M; 14:94590094-94590094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.673G>A; p.V225M; 14:94590094-94590094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.457T>C; p.Y153H; 14:94587819-94587819	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1038G>A; p.E346E; 14:94590896-94590896	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1074G>T; p.S358S; 14:94592092-94592092	skin	malignant_melanoma	Substitution - coding silent
c.619+1G>A; p.?; 14:94587982-94587982	skin	malignant_melanoma	Unknown
c.912C>T; p.P304P; 14:94590770-94590770	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.574G>A; p.D192N; 14:94587936-94587936	skin	malignant_melanoma	Substitution - Missense
c.126C>A; p.P42P; 14:94587488-94587488	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206A>G; p.K402K; 14:94592224-94592224	liver	carcinoma	Substitution - coding silent
c.860T>A; p.L287Q; 14:94590281-94590281	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1066G>C; p.D356H; 14:94592084-94592084	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.743G>T; p.R248L; 14:94590164-94590164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.892C>A; p.Q298K; 14:94590750-94590750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1026C>T; p.I342I; 14:94590884-94590884	skin	malignant_melanoma	Substitution - coding silent
c.1147G>A; p.V383M; 14:94592165-94592165	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.496G>A; p.A166T; 14:94587858-94587858	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.89G>A; p.R30K; 14:94587451-94587451	skin	malignant_melanoma	Substitution - Missense
c.23G>T; p.C8F; 14:94587385-94587385	prostate	carcinoma	Substitution - Missense
c.1097C>A; p.T366K; 14:94592115-94592115	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.897C>T; p.L299L; 14:94590755-94590755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.443C>T; p.A148V; 14:94587805-94587805	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.69C>A; p.H23Q; 14:94587431-94587431	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.69C>A; p.H23Q; 14:94587431-94587431	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]