lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	12
Symbol	SERPINA3
Synonymous	AACT\|ACT\|GIG24\|GIG25
Full name	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Gene description	alpha-1-antichymotrypsin\|cell growth-inhibiting gene 24/25 protein\|growth-inhibiting protein 24\|growth-inhibiting protein 25\|serine (or cysteine) proteinase inhibitor, clade A, member 3\|serpin A3
Cytoband	14q32.1
Gene type	protein-coding
Synonymous	MIM:107280; HGNC:HGNC:16; Ensembl:ENSG00000196136; Ensembl:ENSG00000273259; HPRD:00120; Vega:OTTHUMG00000029851

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.133G>A; p.V45M; 14:94614574-94614574	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.956C>T; p.S319L; 14:94622379-94622379	skin	malignant_melanoma	Substitution - Missense
c.133G>A; p.V45M; 14:94614574-94614574	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.956C>T; p.S319L; 14:94622379-94622379	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1031C>G; p.S344*; 14:94622454-94622454	oesophagus	carcinoma	Substitution - Nonsense
c.142G>A; p.G48R; 14:94614583-94614583	large_intestine; colon	NS	Substitution - Missense
c.142G>A; p.G48R; 14:94614583-94614583	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.380A>G; p.N127S; 14:94614821-94614821	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.246C>T; p.T82T; 14:94614687-94614687	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.246C>T; p.T82T; 14:94614687-94614687	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.73C>A; p.P25T; 14:94614514-94614514	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.752T>C; p.I251T; 14:94619303-94619303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.576C>T; p.I192I; 14:94615017-94615017	skin	malignant_melanoma	Substitution - coding silent
c.213G>T; p.K71N; 14:94614654-94614654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.885C>T; p.T295T; 14:94619436-94619436	skin	malignant_melanoma	Substitution - coding silent
c.885C>T; p.T295T; 14:94619436-94619436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.718A>G; p.M240V; 14:94619269-94619269	NS	NS	Substitution - Missense
c.420C>A; p.A140A; 14:94614861-94614861	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.976G>A; p.D326N; 14:94622399-94622399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.976G>A; p.D326N; 14:94622399-94622399	skin	malignant_melanoma	Substitution - Missense
c.394G>A; p.E132K; 14:94614835-94614835	skin	malignant_melanoma	Substitution - Missense
c.230C>A; p.P77Q; 14:94614671-94614671	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.218T>C; p.V73A; 14:94614659-94614659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.769G>A; p.E257K; 14:94619320-94619320	skin	malignant_melanoma	Substitution - Missense
c.506A>G; p.D169G; 14:94614947-94614947	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.769G>A; p.E257K; 14:94619320-94619320	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.769G>A; p.E257K; 14:94619320-94619320	skin; trunk	malignant_melanoma	Substitution - Missense
c.770A>T; p.E257V; 14:94619321-94619321	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.552G>A; p.V184V; 14:94614993-94614993	skin	malignant_melanoma	Substitution - coding silent
c.892C>T; p.R298W; 14:94619443-94619443	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.770A>T; p.E257V; 14:94619321-94619321	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.373A>T; p.T125S; 14:94614814-94614814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.531G>A; p.K177K; 14:94614972-94614972	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.484G>A; p.G162S; 14:94614925-94614925	skin	malignant_melanoma	Substitution - Missense
c.513G>A; p.Q171Q; 14:94614954-94614954	skin	malignant_melanoma	Substitution - coding silent
c.513G>A; p.Q171Q; 14:94614954-94614954	skin	malignant_melanoma	Substitution - coding silent
c.583C>T; p.L195L; 14:94615024-94615024	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.247G>A; p.A83T; 14:94614688-94614688	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1075C>T; p.H359Y; 14:94623617-94623617	skin	malignant_melanoma	Substitution - Missense
c.547T>A; p.Y183N; 14:94614988-94614988	skin	malignant_melanoma	Substitution - Missense
c.25G>A; p.A9T; 14:94614466-94614466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.880G>A; p.E294K; 14:94619431-94619431	oesophagus	carcinoma	Substitution - Missense
c.25G>A; p.A9T; 14:94614466-94614466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.25G>A; p.A9T; 14:94614466-94614466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.25G>A; p.A9T; 14:94614466-94614466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.580G>C; p.D194H; 14:94615021-94615021	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1237T>C; p.F413L; 14:94623779-94623779	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.412G>A; p.G138R; 14:94614853-94614853	skin	malignant_melanoma	Substitution - Missense
c.325G>T; p.E109*; 14:94614766-94614766	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.970C>T; p.L324L; 14:94622393-94622393	skin	malignant_melanoma	Substitution - coding silent
c.121C>T; p.R41*; 14:94614562-94614562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1130C>A; p.A377E; 14:94623672-94623672	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1151C>T; p.S384F; 14:94623693-94623693	central_nervous_system; brain	glioma	Substitution - Missense
c.917+3G>A; p.?; 14:94619471-94619471	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1079A>G; p.K360R; 14:94623621-94623621	skin	malignant_melanoma	Substitution - Missense
c.405G>A; p.L135L; 14:94614846-94614846	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.570G>A; p.G190G; 14:94615011-94615011	skin	malignant_melanoma	Substitution - coding silent
c.570G>A; p.G190G; 14:94615011-94615011	skin	malignant_melanoma	Substitution - coding silent
c.570G>A; p.G190G; 14:94615011-94615011	skin	malignant_melanoma	Substitution - coding silent
c.244A>C; p.T82P; 14:94614685-94614685	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.113A>C; p.N38T; 14:94614554-94614554	urinary_tract; bladder	carcinoma	Substitution - Missense
c.616G>A; p.V206I; 14:94615057-94615057	skin	malignant_melanoma	Substitution - Missense
c.1162G>A; p.E388K; 14:94623704-94623704	skin	malignant_melanoma	Substitution - Missense
c.723G>A; p.V241V; 14:94619274-94619274	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.259C>T; p.L87L; 14:94614700-94614700	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.814G>A; p.A272T; 14:94619365-94619365	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.644-1G>A; p.?; 14:94619194-94619194	skin; neck	malignant_melanoma	Unknown
c.466G>A; p.D156N; 14:94614907-94614907	skin	malignant_melanoma	Substitution - Missense
c.1221C>T; p.D407D; 14:94623763-94623763	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.543C>T; p.N181N; 14:94614984-94614984	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.543C>T; p.N181N; 14:94614984-94614984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.835C>T; p.P279S; 14:94619386-94619386	skin	malignant_melanoma	Substitution - Missense
c.1090G>A; p.D364N; 14:94623632-94623632	skin	malignant_melanoma	Substitution - Missense
c.303A>G; p.K101K; 14:94614744-94614744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.303A>G; p.K101K; 14:94614744-94614744	thyroid	other; neoplasm	Substitution - coding silent
c.689G>A; p.R230K; 14:94619240-94619240	skin	malignant_melanoma	Substitution - Missense
c.327G>C; p.E109D; 14:94614768-94614768	skin; mucosal	malignant_melanoma	Substitution - Missense
c.465G>A; p.E155E; 14:94614906-94614906	skin	malignant_melanoma	Substitution - coding silent
c.899G>A; p.R300K; 14:94619450-94619450	skin	malignant_melanoma	Substitution - Missense
c.705G>C; p.K235N; 14:94619256-94619256	central_nervous_system; brain	glioma	Substitution - Missense
c.1088T>G; p.L363R; 14:94623630-94623630	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1025A>G; p.D342G; 14:94622448-94622448	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.608C>A; p.T203K; 14:94615049-94615049	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.323C>T; p.T108M; 14:94614764-94614764	skin	malignant_melanoma	Substitution - Missense
c.323C>T; p.T108M; 14:94614764-94614764	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.413G>A; p.G138E; 14:94614854-94614854	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>T; p.G348G; 14:94622467-94622467	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.947T>A; p.F316Y; 14:94622370-94622370	skin	malignant_melanoma	Substitution - Missense
c.111G>T; p.E37D; 14:94614552-94614552	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.111G>T; p.E37D; 14:94614552-94614552	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>T; p.M1I; 14:94614444-94614444	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.141C>T; p.L47L; 14:94614582-94614582	skin	malignant_melanoma	Substitution - coding silent
c.641_642insAGGTG; p.A215fs*21; 14:94615082-94615083	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1066C>A; p.Q356K; 14:94622489-94622489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.555G>A; p.K185K; 14:94614996-94614996	skin	malignant_melanoma	Substitution - coding silent
c.810C>T; p.G270G; 14:94619361-94619361	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1245C>G; p.S415R; 14:94623787-94623787	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.975C>T; p.N325N; 14:94622398-94622398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.199A>T; p.K67*; 14:94614640-94614640	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.122G>A; p.R41Q; 14:94614563-94614563	urinary_tract; bladder	carcinoma	Substitution - Missense
c.37T>C; p.L13L; 14:94614478-94614478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.509T>C; p.F170S; 14:94614950-94614950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.651G>T; p.W217C; 14:94619202-94619202	skin	malignant_melanoma	Substitution - Missense
c.325G>A; p.E109K; 14:94614766-94614766	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.325G>A; p.E109K; 14:94614766-94614766	skin; ear	malignant_melanoma	Substitution - Missense
c.988C>T; p.Q330*; 14:94622411-94622411	skin	malignant_melanoma	Substitution - Nonsense
c.435G>T; p.E145D; 14:94614876-94614876	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.928G>A; p.E310K; 14:94622351-94622351	skin	malignant_melanoma	Substitution - Missense
c.557A>T; p.N186I; 14:94614998-94614998	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928G>A; p.E310K; 14:94622351-94622351	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.91G>A; p.E31K; 14:94614532-94614532	skin; mucosal	malignant_melanoma	Substitution - Missense
c.577A>G; p.T193A; 14:94615018-94615018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.158A>T; p.N53I; 14:94614599-94614599	pancreas	other; adenoma	Substitution - Missense
c.446T>A; p.L149Q; 14:94614887-94614887	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.162G>A; p.V54V; 14:94614603-94614603	skin	malignant_melanoma	Substitution - coding silent
c.1147C>A; p.L383I; 14:94623689-94623689	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>T; p.I318I; 14:94622377-94622377	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.779C>T; p.S260F; 14:94619330-94619330	skin	malignant_melanoma	Substitution - Missense
c.1219G>A; p.D407N; 14:94623761-94623761	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.441C>T; p.L147L; 14:94614882-94614882	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1245C>T; p.S415S; 14:94623787-94623787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1219G>A; p.D407N; 14:94623761-94623761	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.168C>T; p.F56F; 14:94614609-94614609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.602C>T; p.S201L; 14:94615043-94615043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1243A>G; p.S415G; 14:94623785-94623785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>A; p.E145K; 14:94614874-94614874	kidney	other; neoplasm	Substitution - Missense
c.433G>A; p.E145K; 14:94614874-94614874	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.720G>A; p.M240I; 14:94619271-94619271	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.354C>T; p.S118S; 14:94614795-94614795	pancreas	carcinoma	Substitution - coding silent
c.153C>T; p.S51S; 14:94614594-94614594	skin; arm	malignant_melanoma	Substitution - coding silent
c.852G>A; p.M284I; 14:94619403-94619403	skin	malignant_melanoma	Substitution - Missense
c.1125C>T; p.A375A; 14:94623667-94623667	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.46G>T; p.G16W; 14:94614487-94614487	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.852G>A; p.M284I; 14:94619403-94619403	skin	malignant_melanoma	Substitution - Missense
c.478C>T; p.L160L; 14:94614919-94614919	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1212C>T; p.V404V; 14:94623754-94623754	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.937C>G; p.L313V; 14:94622360-94622360	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.163G>A; p.D55N; 14:94614604-94614604	skin	malignant_melanoma	Substitution - Missense
c.104C>T; p.T35I; 14:94614545-94614545	skin	malignant_melanoma	Substitution - Missense
c.51C>A; p.F17L; 14:94614492-94614492	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.531G>T; p.K177N; 14:94614972-94614972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.161T>G; p.V54G; 14:94614602-94614602	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1181G>A; p.R394H; 14:94623723-94623723	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1011C>T; p.F337F; 14:94622434-94622434	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.861G>A; p.V287V; 14:94619412-94619412	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1028T>A; p.L343Q; 14:94622451-94622451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.490G>C; p.E164Q; 14:94614931-94614931	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.853G>C; p.E285Q; 14:94619404-94619404	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.550G>A; p.V184M; 14:94614991-94614991	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.550G>A; p.V184M; 14:94614991-94614991	large_intestine; colon	carcinoma	Substitution - Missense
c.294G>A; p.E98E; 14:94614735-94614735	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.108G>A; p.Q36Q; 14:94614549-94614549	skin	malignant_melanoma	Substitution - coding silent
c.904T>C; p.S302P; 14:94619455-94619455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.904T>C; p.S302P; 14:94619455-94619455	ovary	carcinoma; serous_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation