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	1548
Symbol	CYP2A6
Synonymous	CPA6\|CYP2A\|CYP2A3\|CYPIIA6\|P450C2A\|P450PB
Full name	cytochrome P450, family 2, subfamily A, polypeptide 6
Gene description	1,4-cineole 2-exo-monooxygenase\|coumarin 7-hydroxylase\|cytochrome P450 2A6\|cytochrome P450 IIA3\|cytochrome P450(I)\|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6\|flavoprotein-linked monooxygenase\|xenobiotic monooxygenase
Cytoband	19q13.2
Gene type	protein-coding
Synonymous	MIM:122720; HGNC:HGNC:2610; Ensembl:ENSG00000255974; HPRD:00420; Vega:OTTHUMG00000182713

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.809C>G; p.S270C; 19:40846897-40846897	urinary_tract; bladder	carcinoma	Substitution - Missense
c.901G>T; p.G301W; 19:40846028-40846028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.505G>A; p.D169N; 19:40848368-40848368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.505G>A; p.D169N; 19:40848368-40848368	urinary_tract; bladder	carcinoma	Substitution - Missense
c.620G>A; p.G207E; 19:40848253-40848253	skin	malignant_melanoma	Substitution - Missense
c.608G>A; p.R203H; 19:40848265-40848265	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.782C>T; p.P261L; 19:40846924-40846924	skin	malignant_melanoma	Substitution - Missense
c.307G>A; p.E103K; 19:40849854-40849854	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1201G>T; p.D401Y; 19:40844733-40844733	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.81G>T; p.R27S; 19:40850346-40850346	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1386C>T; p.L462L; 19:40843895-40843895	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.406C>A; p.R136R; 19:40848701-40848701	thyroid	other; neoplasm	Substitution - coding silent
c.406C>A; p.R136R; 19:40848701-40848701	thyroid	other; neoplasm	Substitution - coding silent
c.406C>A; p.R136R; 19:40848701-40848701	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.406C>A; p.R136R; 19:40848701-40848701	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.406C>A; p.R136R; 19:40848701-40848701	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.406C>A; p.R136R; 19:40848701-40848701	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.406C>A; p.R136R; 19:40848701-40848701	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1157C>T; p.P386L; 19:40845298-40845298	liver	carcinoma	Substitution - Missense
c.1157C>T; p.P386L; 19:40845298-40845298	oesophagus	carcinoma	Substitution - Missense
c.1161+10G>A; p.?; 19:40845284-40845284	thyroid	carcinoma	Unknown
c.715C>A; p.Q239K; 19:40846991-40846991	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.607C>A; p.R203S; 19:40848266-40848266	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.607C>A; p.R203S; 19:40848266-40848266	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.436G>T; p.E146*; 19:40848671-40848671	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1283C>T; p.A428V; 19:40844651-40844651	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.607C>A; p.R203S; 19:40848266-40848266	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1402C>A; p.P468T; 19:40843879-40843879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.346G>A; p.V116M; 19:40848761-40848761	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.916G>A; p.V306I; 19:40846013-40846013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.916G>A; p.V306I; 19:40846013-40846013	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1407G>A; p.K469K; 19:40843874-40843874	skin	malignant_melanoma	Substitution - coding silent
c.202G>A; p.V68M; 19:40849959-40849959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.851C>T; p.T284M; 19:40846078-40846078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.93G>A; p.G31G; 19:40850334-40850334	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.971A>G; p.E324G; 19:40845958-40845958	ovary	other; neoplasm	Substitution - Missense
c.516C>A; p.F172L; 19:40848357-40848357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.971A>G; p.E324G; 19:40845958-40845958	ovary	other; neoplasm	Substitution - Missense
c.414C>T; p.F138F; 19:40848693-40848693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.519C>T; p.F173F; 19:40848354-40848354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.607C>T; p.R203C; 19:40848266-40848266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.817A>T; p.I273F; 19:40846889-40846889	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.265G>A; p.E89K; 19:40849896-40849896	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588A>C; p.K196N; 19:40848285-40848285	liver	carcinoma	Substitution - Missense
c.1291C>A; p.P431T; 19:40844643-40844643	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.608delG; p.R203fs*2; 19:40848265-40848265	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.565G>A; p.D189N; 19:40848308-40848308	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.495C>T; p.G165G; 19:40848378-40848378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.669C>A; p.F223L; 19:40847037-40847037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1356C>A; p.F452L; 19:40843925-40843925	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1382G>A; p.R461H; 19:40843899-40843899	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1382G>A; p.R461H; 19:40843899-40843899	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.992T>C; p.I331T; 19:40845463-40845463	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.834G>A; p.E278E; 19:40846095-40846095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1091A>C; p.D364A; 19:40845364-40845364	breast	carcinoma	Substitution - Missense
c.1312A>T; p.N438Y; 19:40843969-40843969	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1244A>C; p.H415P; 19:40844690-40844690	skin	malignant_melanoma	Substitution - Missense
c.302G>A; p.R101Q; 19:40849859-40849859	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.318C>T; p.T106T; 19:40849843-40849843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1199G>A; p.R400K; 19:40844735-40844735	skin	malignant_melanoma	Substitution - Missense
c.730C>T; p.L244L; 19:40846976-40846976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.474C>G; p.D158E; 19:40848633-40848633	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.474C>G; p.D158E; 19:40848633-40848633	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.474C>G; p.D158E; 19:40848633-40848633	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.474C>G; p.D158E; 19:40848633-40848633	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.474C>G; p.D158E; 19:40848633-40848633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.474C>G; p.D158E; 19:40848633-40848633	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.474C>G; p.D158E; 19:40848633-40848633	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.458C>T; p.A153V; 19:40848649-40848649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.458C>T; p.A153V; 19:40848649-40848649	large_intestine; colon	NS	Substitution - Missense
c.159G>C; p.Q53H; 19:40850268-40850268	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.527G>A; p.R176H; 19:40848346-40848346	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.527G>A; p.R176H; 19:40848346-40848346	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1141C>T; p.R381W; 19:40845314-40845314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1141C>T; p.R381W; 19:40845314-40845314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191G>A; p.R64H; 19:40849970-40849970	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.454G>A; p.E152K; 19:40848653-40848653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265A>G; p.Q422R; 19:40844669-40844669	skin	malignant_melanoma	Substitution - Missense
c.446T>C; p.I149T; 19:40848661-40848661	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.84G>A; p.K28K; 19:40850343-40850343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1082G>T; p.R361I; 19:40845373-40845373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.787T>A; p.S263T; 19:40846919-40846919	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1036C>T; p.R346W; 19:40845419-40845419	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.753G>T; p.K251N; 19:40846953-40846953	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.507T>G; p.D169E; 19:40848366-40848366	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1219A>C; p.N407H; 19:40844715-40844715	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.998G>A; p.R333K; 19:40845457-40845457	skin	malignant_melanoma	Substitution - Missense
c.1324G>C; p.E442Q; 19:40843957-40843957	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1320C>T; p.F440F; 19:40843961-40843961	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.981C>A; p.V327V; 19:40845474-40845474	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.981C>A; p.V327V; 19:40845474-40845474	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.463T>C; p.F155L; 19:40848644-40848644	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.461G>A; p.G154D; 19:40848646-40848646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>A; p.L135M; 19:40848704-40848704	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.681G>A; p.M227I; 19:40847025-40847025	skin	malignant_melanoma	Substitution - Missense
c.770G>A; p.R257H; 19:40846936-40846936	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.15G>A; p.G5G; 19:40850412-40850412	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1412T>C; p.I471T; 19:40843869-40843869	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.961C>A; p.P321T; 19:40845968-40845968	stomach	adenocarcinoma	Substitution - Missense
c.975C>T; p.A325A; 19:40845480-40845480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1347C>T; p.L449L; 19:40843934-40843934	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.656T>C; p.L219P; 19:40847050-40847050	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.656T>C; p.L219P; 19:40847050-40847050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.485G>A; p.G162D; 19:40848622-40848622	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.18G>A; p.M6I; 19:40850409-40850409	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.57C>T; p.V19V; 19:40850370-40850370	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1191T>C; p.S397S; 19:40844743-40844743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.442C>T; p.R148C; 19:40848665-40848665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>T; p.G479V; 19:40843845-40843845	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.688C>T; p.L230L; 19:40847018-40847018	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.635C>T; p.T212M; 19:40848238-40848238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.780delT; p.N262fs*27; 19:40846926-40846926	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.1481G>A; p.R494H; 19:40843800-40843800	prostate	carcinoma	Substitution - Missense
c.1481G>A; p.R494H; 19:40843800-40843800	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1481G>A; p.R494H; 19:40843800-40843800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>A; p.V79M; 19:40849926-40849926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.666G>A; p.M222I; 19:40847040-40847040	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1156C>T; p.P386S; 19:40845299-40845299	skin	malignant_melanoma	Substitution - Missense
c.1178C>A; p.P393H; 19:40844756-40844756	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1212C>A; p.F404L; 19:40844722-40844722	skin	malignant_melanoma	Substitution - Missense
c.198C>T; p.G66G; 19:40849963-40849963	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.198C>T; p.G66G; 19:40849963-40849963	skin	malignant_melanoma	Substitution - coding silent
c.474C>T; p.D158D; 19:40848633-40848633	breast	carcinoma	Substitution - coding silent
c.884C>T; p.T295M; 19:40846045-40846045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.360C>T; p.N120N; 19:40848747-40848747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1030G>A; p.E344K; 19:40845425-40845425	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.492C>T; p.G164G; 19:40848615-40848615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1069C>T; p.H357Y; 19:40845386-40845386	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.580A>G; p.K194E; 19:40848293-40848293	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.636G>A; p.T212T; 19:40848237-40848237	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.350T>C; p.V117A; 19:40848757-40848757	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.60G>C; p.L20F; 19:40850367-40850367	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.351A>G; p.V117V; 19:40848756-40848756	thyroid	other; neoplasm	Substitution - coding silent
c.351A>G; p.V117V; 19:40848756-40848756	thyroid	other; neoplasm	Substitution - coding silent
c.351A>G; p.V117V; 19:40848756-40848756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.S464S; 19:40843889-40843889	skin	malignant_melanoma	Substitution - coding silent
c.351A>G; p.V117V; 19:40848756-40848756	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1309C>T; p.R437W; 19:40843972-40843972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.351A>G; p.V117V; 19:40848756-40848756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.351A>G; p.V117V; 19:40848756-40848756	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1103T>C; p.M368T; 19:40845352-40845352	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1119A>G; p.R373R; 19:40845336-40845336	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1167C>T; p.T389T; 19:40844767-40844767	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1167C>T; p.T389T; 19:40844767-40844767	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.320_321TC>AA; p.F107>?; 19:40849840-40849841	large_intestine; rectum	carcinoma; adenocarcinoma	Complex
c.1006G>A; p.G336S; 19:40845449-40845449	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>A; p.R372H; 19:40845340-40845340	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.80G>C; p.R27T; 19:40850347-40850347	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.946C>T; p.L316L; 19:40845983-40845983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.857T>A; p.F286Y; 19:40846072-40846072	skin	malignant_melanoma	Substitution - Missense
c.288G>A; p.E96E; 19:40849873-40849873	skin	malignant_melanoma	Substitution - coding silent
c.657C>A; p.L219L; 19:40847049-40847049	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1201G>A; p.D401N; 19:40844733-40844733	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation