Entrez Gene

Basic Information
Gene ID	6318
Name	SERPINB4

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.697G>A; p.E233K; 18:63639256-63639256	skin	malignant_melanoma	Substitution - Missense
c.959G>A; p.S320N; 18:63637933-63637933	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>A; p.E233K; 18:63639256-63639256	skin	malignant_melanoma	Substitution - Missense
c.891C>T; p.D297D; 18:63638001-63638001	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.753C>T; p.I251I; 18:63639200-63639200	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.676G>A; p.D226N; 18:63639277-63639277	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.934G>A; p.A312T; 18:63637958-63637958	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1043C>G; p.A348G; 18:63637849-63637849	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.916A>G; p.N306D; 18:63637976-63637976	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>T; p.D171Y; 18:63639735-63639735	liver	carcinoma	Substitution - Missense
c.155A>C; p.Q52P; 18:63643423-63643423	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.98G>A; p.S33N; 18:63643480-63643480	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.581A>G; p.N194S; 18:63639665-63639665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.374A>C; p.K125T; 18:63640969-63640969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.835T>C; p.C279R; 18:63638057-63638057	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.960C>T; p.S320S; 18:63637932-63637932	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.469+5G>C; p.?; 18:63640869-63640869	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.534C>T; p.N178N; 18:63639712-63639712	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.374A>T; p.K125I; 18:63640969-63640969	skin	malignant_melanoma	Substitution - Missense
c.108A>G; p.S36S; 18:63643470-63643470	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.166-1G>A; p.?; 18:63643218-63643218	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.511G>A; p.D171N; 18:63639735-63639735	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.117G>A; p.G39G; 18:63643461-63643461	skin	malignant_melanoma	Substitution - coding silent
c.117G>A; p.G39G; 18:63643461-63643461	liver	carcinoma	Substitution - coding silent
c.271G>A; p.E91K; 18:63641840-63641840	skin	malignant_melanoma	Substitution - Missense
c.271G>A; p.E91K; 18:63641840-63641840	skin	malignant_melanoma	Substitution - Missense
c.626C>A; p.S209Y; 18:63639327-63639327	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.331A>T; p.K111*; 18:63641780-63641780	skin	malignant_melanoma	Substitution - Nonsense
c.33C>T; p.F11F; 18:63643545-63643545	oesophagus	carcinoma	Substitution - coding silent
c.310G>A; p.A104T; 18:63641801-63641801	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.544T>G; p.F182V; 18:63639702-63639702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689A>T; p.K230M; 18:63639264-63639264	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.507C>T; p.G169G; 18:63639739-63639739	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.836G>T; p.C279F; 18:63638056-63638056	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1064C>T; p.S355L; 18:63637828-63637828	skin	malignant_melanoma	Substitution - Missense
c.1064C>T; p.S355L; 18:63637828-63637828	skin; neck	malignant_melanoma	Substitution - Missense
c.496G>A; p.G166R; 18:63639750-63639750	skin	malignant_melanoma	Substitution - Missense
c.3G>A; p.M1I; 18:63643575-63643575	skin	malignant_melanoma	Substitution - Missense
c.1108C>A; p.L370I; 18:63637784-63637784	breast	carcinoma	Substitution - Missense
c.21C>G; p.A7A; 18:63643557-63643557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.161G>A; p.S54N; 18:63643417-63643417	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.647A>T; p.Y216F; 18:63639306-63639306	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.366C>T; p.A122A; 18:63640977-63640977	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.295T>C; p.Y99H; 18:63641816-63641816	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.786T>C; p.T262T; 18:63638106-63638106	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.535G>A; p.A179T; 18:63639711-63639711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.535G>A; p.A179T; 18:63639711-63639711	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.169C>T; p.L57F; 18:63643214-63643214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.653C>A; p.S218Y; 18:63639300-63639300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.544T>A; p.F182I; 18:63639702-63639702	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.470-1G>A; p.?; 18:63639777-63639777	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.470-1G>A; p.?; 18:63639777-63639777	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.555G>C; p.Q185H; 18:63639691-63639691	ovary	other; neoplasm	Substitution - Missense
c.628G>T; p.V210L; 18:63639325-63639325	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1166C>T; p.S389F; 18:63637726-63637726	skin	malignant_melanoma	Substitution - Missense
c.856C>G; p.R286G; 18:63638036-63638036	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.586A>G; p.K196E; 18:63639660-63639660	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.84C>A; p.F28L; 18:63643494-63643494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.84C>A; p.F28L; 18:63643494-63643494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1172A>G; p.*391W; 18:63637720-63637720	skin	malignant_melanoma	Nonstop extension
c.868G>A; p.E290K; 18:63638024-63638024	skin; extremity	malignant_melanoma	Substitution - Missense
c.1107C>T; p.F369F; 18:63637785-63637785	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1010C>A; p.T337N; 18:63637882-63637882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>T; p.A332S; 18:63637898-63637898	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1137C>T; p.N379N; 18:63637755-63637755	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1167C>A; p.S389S; 18:63637725-63637725	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.834A>G; p.T278T; 18:63638058-63638058	liver	carcinoma	Substitution - coding silent
c.834A>G; p.T278T; 18:63638058-63638058	liver	carcinoma	Substitution - coding silent
c.1096A>G; p.N366D; 18:63637796-63637796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.516G>C; p.T172T; 18:63639730-63639730	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.691G>A; p.V231I; 18:63639262-63639262	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.324C>T; p.F108F; 18:63641787-63641787	skin	malignant_melanoma	Substitution - coding silent
c.324C>T; p.F108F; 18:63641787-63641787	skin	malignant_melanoma	Substitution - coding silent
c.1142T>A; p.I381N; 18:63637750-63637750	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1143C>T; p.I381I; 18:63637749-63637749	skin	malignant_melanoma	Substitution - coding silent
c.951G>A; p.M317I; 18:63637941-63637941	breast	carcinoma	Substitution - Missense
c.951G>A; p.M317I; 18:63637941-63637941	skin	malignant_melanoma	Substitution - Missense
c.1040C>A; p.T347N; 18:63637852-63637852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.867G>A; p.M289I; 18:63638025-63638025	skin	malignant_melanoma	Substitution - Missense
c.325G>A; p.G109R; 18:63641786-63641786	thyroid	carcinoma	Substitution - Missense
c.242T>C; p.V81A; 18:63641869-63641869	skin	malignant_melanoma	Substitution - Missense
c.992A>G; p.K331R; 18:63637900-63637900	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.430C>T; p.R144*; 18:63640913-63640913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.539T>C; p.I180T; 18:63639707-63639707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.946G>A; p.G316S; 18:63637946-63637946	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.335C>T; p.T112M; 18:63641776-63641776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1069C>G; p.P357A; 18:63637823-63637823	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1013A>T; p.E338V; 18:63637879-63637879	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.226G>A; p.D76N; 18:63641885-63641885	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.20C>G; p.A7G; 18:63643558-63643558	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1056C>T; p.V352V; 18:63637836-63637836	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.954C>A; p.T318T; 18:63637938-63637938	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1056C>T; p.V352V; 18:63637836-63637836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1042G>A; p.A348T; 18:63637850-63637850	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1042G>A; p.A348T; 18:63637850-63637850	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1042G>A; p.A348T; 18:63637850-63637850	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.653C>T; p.S218F; 18:63639300-63639300	skin	malignant_melanoma	Substitution - Missense
c.528T>A; p.L176L; 18:63639718-63639718	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.86A>C; p.Y29S; 18:63643492-63643492	meninges	meningioma; haemangiopericytic	Substitution - Missense
c.1028C>T; p.A343V; 18:63637864-63637864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.658A>T; p.N220Y; 18:63639295-63639295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12C>T; p.L4L; 18:63643566-63643566	skin	malignant_melanoma	Substitution - coding silent
c.306G>A; p.K102K; 18:63641805-63641805	skin	malignant_melanoma	Substitution - coding silent
c.352-1G>T; p.?; 18:63640992-63640992	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.526C>T; p.L176F; 18:63639720-63639720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.520C>T; p.L174L; 18:63639726-63639726	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.124C>T; p.L42F; 18:63643454-63643454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.928_929GG>TT; p.G310>?; 18:63637963-63637964	lung	carcinoma; adenocarcinoma	Complex
c.220C>T; p.H74Y; 18:63643163-63643163	skin	malignant_melanoma	Substitution - Missense
c.220C>T; p.H74Y; 18:63643163-63643163	skin	malignant_melanoma	Substitution - Missense
c.340C>T; p.Q114*; 18:63641771-63641771	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.1163C>T; p.S388L; 18:63637729-63637729	skin	malignant_melanoma	Substitution - Missense
c.894G>A; p.T298T; 18:63637998-63637998	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.294A>G; p.A98A; 18:63641817-63641817	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.210T>A; p.A70A; 18:63643173-63643173	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.841G>A; p.D281N; 18:63638051-63638051	skin	malignant_melanoma	Substitution - Missense
c.841G>A; p.D281N; 18:63638051-63638051	skin	malignant_melanoma	Substitution - Missense
c.210T>A; p.A70A; 18:63643173-63643173	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.469+1G>A; p.?; 18:63640873-63640873	skin	malignant_melanoma	Unknown
c.396A>C; p.E132D; 18:63640947-63640947	pancreas	carcinoma	Substitution - Missense
c.811A>C; p.S271R; 18:63638081-63638081	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.104C>A; p.T35K; 18:63643474-63643474	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.540C>A; p.I180I; 18:63639706-63639706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.91C>T; p.P31S; 18:63643487-63643487	skin	malignant_melanoma	Substitution - Missense
c.659A>C; p.N220T; 18:63639294-63639294	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.91C>A; p.P31T; 18:63643487-63643487	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>A; p.P31T; 18:63643487-63643487	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.913G>T; p.V305L; 18:63637979-63637979	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.890A>G; p.D297G; 18:63638002-63638002	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.531G>C; p.V177V; 18:63639715-63639715	breast	carcinoma	Substitution - coding silent
c.72G>A; p.E24E; 18:63643506-63643506	skin	malignant_melanoma	Substitution - coding silent
c.435G>A; p.K145K; 18:63640908-63640908	skin	malignant_melanoma	Substitution - coding silent
c.410C>A; p.A137E; 18:63640933-63640933	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.E353K; 18:63637835-63637835	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.748G>A; p.E250K; 18:63639205-63639205	skin	malignant_melanoma	Substitution - Missense
c.1089C>A; p.F363L; 18:63637803-63637803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.39C>A; p.F13L; 18:63643539-63643539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.748G>A; p.E250K; 18:63639205-63639205	skin	malignant_melanoma	Substitution - Missense
c.476T>A; p.I159N; 18:63639770-63639770	prostate	adenoma	Substitution - Missense
c.741G>A; p.L247L; 18:63639212-63639212	liver	carcinoma	Substitution - coding silent
c.875G>A; p.S292N; 18:63638017-63638017	skin	malignant_melanoma	Substitution - Missense
c.707A>T; p.Y236F; 18:63639246-63639246	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1041C>T; p.T347T; 18:63637851-63637851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.626C>G; p.S209C; 18:63639327-63639327	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.721C>T; p.L241L; 18:63639232-63639232	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.626C>G; p.S209C; 18:63639327-63639327	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.477T>C; p.I159I; 18:63639769-63639769	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.39C>T; p.F13F; 18:63643539-63643539	NS	malignant_melanoma	Substitution - coding silent
c.39C>T; p.F13F; 18:63643539-63643539	NS	malignant_melanoma	Substitution - coding silent
c.865A>G; p.M289V; 18:63638027-63638027	pancreas	carcinoma	Substitution - Missense
c.592G>A; p.E198K; 18:63639654-63639654	skin	malignant_melanoma	Substitution - Missense
c.1081G>A; p.E361K; 18:63637811-63637811	skin	malignant_melanoma	Substitution - Missense
c.592G>A; p.E198K; 18:63639654-63639654	skin	malignant_melanoma	Substitution - Missense
c.865A>G; p.M289V; 18:63638027-63638027	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.518C>A; p.T173K; 18:63639728-63639728	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.490C>T; p.P164S; 18:63639756-63639756	skin	malignant_melanoma	Substitution - Missense
c.490C>T; p.P164S; 18:63639756-63639756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.490C>T; p.P164S; 18:63639756-63639756	skin	malignant_melanoma	Substitution - Missense
c.352G>A; p.E118K; 18:63640991-63640991	skin	malignant_melanoma	Substitution - Missense
c.1138A>T; p.S380C; 18:63637754-63637754	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.687C>A; p.A229A; 18:63639266-63639266	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.696G>A; p.L232L; 18:63639257-63639257	skin	malignant_melanoma	Substitution - coding silent
c.526C>A; p.L176I; 18:63639720-63639720	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database