| Gene ID | 1544 |
| Symbol | CYP1A2 |
| Synonymous | CP12|P3-450|P450(PA) |
| Full name | cytochrome P450, family 1, subfamily A, polypeptide 2 |
| Gene description | CYPIA2|P450 form 4|aryl hydrocarbon hydroxylase|cytochrome P(3)450|cytochrome P450 1A2|cytochrome P450 4|cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2|cytochrome P450-P3|dioxin-inducible P3-450|flavoprotein-linked monooxygenase |
| Cytoband | 15q24.1 |
| Gene type | protein-coding |
| Synonymous | MIM:124060; HGNC:HGNC:2596; Ensembl:ENSG00000140505; HPRD:00489; Vega:OTTHUMG00000172901 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.851C>T; p.T284M; 15:74751208-74751208 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1450C>A; p.P484T; 15:74754987-74754987 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.615C>T; p.F205F; 15:74750353-74750353 |
skin | malignant_melanoma | Substitution - coding silent |
c.1457G>T; p.G486V; 15:74754994-74754994 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.831+8C>A; p.?; 15:74750577-74750577 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.1215C>T; p.C405C; 15:74753232-74753232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1503C>T; p.H501H; 15:74755040-74755040 |
liver | carcinoma | Substitution - coding silent |
c.1503C>T; p.H501H; 15:74755040-74755040 |
liver | carcinoma | Substitution - coding silent |
c.1064G>A; p.R355Q; 15:74752145-74752145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.302A>G; p.Q101R; 15:74750040-74750040 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.151C>G; p.L51V; 15:74749889-74749889 |
breast | carcinoma | Substitution - Missense |
c.826G>A; p.D276N; 15:74750564-74750564 |
meninges | meningioma; secretory | Substitution - Missense |
c.126A>C; p.P42P; 15:74749864-74749864 |
breast | carcinoma | Substitution - coding silent |
c.727C>T; p.R243C; 15:74750465-74750465 |
skin | malignant_melanoma | Substitution - Missense |
c.251C>T; p.P84L; 15:74749989-74749989 |
skin | malignant_melanoma | Substitution - Missense |
c.464C>T; p.S155F; 15:74750202-74750202 |
skin | malignant_melanoma | Substitution - Missense |
c.881G>A; p.G294E; 15:74751238-74751238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1240G>A; p.V414I; 15:74753257-74753257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.321C>A; p.G107G; 15:74750059-74750059 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.501G>A; p.K167K; 15:74750239-74750239 |
skin | malignant_melanoma | Substitution - coding silent |
c.501G>A; p.K167K; 15:74750239-74750239 |
skin | malignant_melanoma | Substitution - coding silent |
c.60C>T; p.I20I; 15:74749798-74749798 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.348C>T; p.L116L; 15:74750086-74750086 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.249G>A; p.T83T; 15:74749987-74749987 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.249G>A; p.T83T; 15:74749987-74749987 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.727C>G; p.R243G; 15:74750465-74750465 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.306C>T; p.G102G; 15:74750044-74750044 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.216C>T; p.Y72Y; 15:74749954-74749954 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.323G>A; p.R108Q; 15:74750061-74750061 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1023G>A; p.R341R; 15:74751835-74751835 |
skin | malignant_melanoma | Substitution - coding silent |
c.1023G>A; p.R341R; 15:74751835-74751835 |
skin | malignant_melanoma | Substitution - coding silent |
c.1023G>A; p.R341R; 15:74751835-74751835 |
skin | malignant_melanoma | Substitution - coding silent |
c.211C>T; p.R71C; 15:74749949-74749949 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1166+2T>C; p.?; 15:74752249-74752249 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.393G>A; p.P131P; 15:74750131-74750131 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1455G>A; p.P485P; 15:74754992-74754992 |
pancreas | carcinoma | Substitution - coding silent |
c.1455G>A; p.P485P; 15:74754992-74754992 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.884C>T; p.P295L; 15:74751241-74751241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.887G>C; p.R296T; 15:74751244-74751244 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.88G>T; p.G30C; 15:74749826-74749826 |
skin | malignant_melanoma | Substitution - Missense |
c.1068G>A; p.R356R; 15:74752149-74752149 |
skin | malignant_melanoma | Substitution - coding silent |
c.209_210AG>CC; p.Q70>?; 15:74749947-74749948 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex |
c.407G>A; p.R136H; 15:74750145-74750145 |
prostate | carcinoma | Substitution - Missense |
c.258G>A; p.L86L; 15:74749996-74749996 |
thyroid | carcinoma | Substitution - coding silent |
c.1221C>A; p.V407V; 15:74753238-74753238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.407G>A; p.R136H; 15:74750145-74750145 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.236G>T; p.R79L; 15:74749974-74749974 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.696C>T; p.S232S; 15:74750434-74750434 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.696C>T; p.S232S; 15:74750434-74750434 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1344G>C; p.M448I; 15:74754881-74754881 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.872G>A; p.S291N; 15:74751229-74751229 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.774G>A; p.Q258Q; 15:74750512-74750512 |
skin | malignant_melanoma | Substitution - coding silent |
c.253G>A; p.V85M; 15:74749991-74749991 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1413C>T; p.F471F; 15:74754950-74754950 |
skin | malignant_melanoma | Substitution - coding silent |
c.740A>C; p.N247T; 15:74750478-74750478 |
pancreas | carcinoma | Substitution - Missense |
c.495G>C; p.V165V; 15:74750233-74750233 |
breast | carcinoma | Substitution - coding silent |
c.1159C>T; p.P387S; 15:74752240-74752240 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.289G>A; p.A97T; 15:74750027-74750027 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.248C>T; p.T83M; 15:74749986-74749986 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.609G>A; p.M203I; 15:74750347-74750347 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.115C>G; p.L39V; 15:74749853-74749853 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.115C>G; p.L39V; 15:74749853-74749853 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.448G>A; p.A150T; 15:74750186-74750186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1506C>T; p.A502A; 15:74755043-74755043 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1166G>T; p.S389I; 15:74752247-74752247 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.299G>A; p.R100Q; 15:74750037-74750037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116C>T; p.I372I; 15:74752197-74752197 |
skin | malignant_melanoma | Substitution - coding silent |
c.1398G>A; p.W466*; 15:74754935-74754935 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1253+1G>A; p.?; 15:74753271-74753271 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.269G>A; p.R90H; 15:74750007-74750007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1468G>A; p.D490N; 15:74755005-74755005 |
skin | malignant_melanoma | Substitution - Missense |
c.1125C>T; p.T375T; 15:74752206-74752206 |
skin | malignant_melanoma | Substitution - coding silent |
c.1125C>T; p.T375T; 15:74752206-74752206 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1489C>T; p.L497L; 15:74755026-74755026 |
skin | malignant_melanoma | Substitution - coding silent |
c.185A>C; p.H62P; 15:74749923-74749923 |
breast | carcinoma | Substitution - Missense |
c.927C>A; p.N309K; 15:74751284-74751284 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1305C>T; p.A435A; 15:74754842-74754842 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1498A>G; p.K500E; 15:74755035-74755035 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1528C>T; p.R510W; 15:74755065-74755065 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1177G>A; p.D393N; 15:74753194-74753194 |
skin | malignant_melanoma | Substitution - Missense |
c.1010C>A; p.P337H; 15:74751822-74751822 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1447G>A; p.V483M; 15:74754984-74754984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1447G>A; p.V483M; 15:74754984-74754984 |
breast | carcinoma | Substitution - Missense |
c.1447G>A; p.V483M; 15:74754984-74754984 |
breast | carcinoma | Substitution - Missense |
c.1447G>A; p.V483M; 15:74754984-74754984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.320G>A; p.G107D; 15:74750058-74750058 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.857C>A; p.A286D; 15:74751214-74751214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.844G>A; p.D282N; 15:74751201-74751201 |
skin | malignant_melanoma | Substitution - Missense |
c.547C>T; p.P183S; 15:74750285-74750285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1527G>A; p.A509A; 15:74755064-74755064 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1093C>T; p.L365L; 15:74752174-74752174 |
skin | malignant_melanoma | Substitution - coding silent |
c.1469A>G; p.D490G; 15:74755006-74755006 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.362A>G; p.Q121R; 15:74750100-74750100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.804C>T; p.V268V; 15:74750542-74750542 |
skin | malignant_melanoma | Substitution - coding silent |
c.1452G>A; p.P484P; 15:74754989-74754989 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1452G>A; p.P484P; 15:74754989-74754989 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.100C>T; p.R34W; 15:74749838-74749838 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.156G>A; p.G52G; 15:74749894-74749894 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.100C>T; p.R34W; 15:74749838-74749838 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1452G>A; p.P484P; 15:74754989-74754989 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.980C>T; p.S327F; 15:74751792-74751792 |
skin | malignant_melanoma | Substitution - Missense |
c.1432C>A; p.Q478K; 15:74754969-74754969 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.491A>G; p.H164R; 15:74750229-74750229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1452G>A; p.P484P; 15:74754989-74754989 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1452G>A; p.P484P; 15:74754989-74754989 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1010C>T; p.P337L; 15:74751822-74751822 |
skin | malignant_melanoma | Substitution - Missense |
c.1295_1296insC; p.L433fs*9; 15:74754832-74754833 |
skin | malignant_melanoma | Insertion - Frameshift |
c.663G>T; p.K221N; 15:74750401-74750401 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.245C>T; p.S82F; 15:74749983-74749983 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.273G>A; p.L91L; 15:74750011-74750011 |
skin | malignant_melanoma | Substitution - coding silent |
c.1310G>A; p.G437D; 15:74754847-74754847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.802G>T; p.V268F; 15:74750540-74750540 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.235C>T; p.R79C; 15:74749973-74749973 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.235C>T; p.R79C; 15:74749973-74749973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1081G>A; p.D361N; 15:74752162-74752162 |
oesophagus | carcinoma | Substitution - Missense |
c.363G>A; p.Q121Q; 15:74750101-74750101 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.363G>A; p.Q121Q; 15:74750101-74750101 |
breast | carcinoma; HER-positive_carcinoma | Substitution - coding silent |
c.1534C>T; p.R512C; 15:74755071-74755071 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1066C>T; p.R356W; 15:74752147-74752147 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>A; p.E422K; 15:74754801-74754801 |
skin | malignant_melanoma | Substitution - Missense |
c.1066C>T; p.R356W; 15:74752147-74752147 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.724C>T; p.L242F; 15:74750462-74750462 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.699G>A; p.G233G; 15:74750437-74750437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.906C>G; p.I302M; 15:74751263-74751263 |
thyroid | carcinoma | Substitution - Missense |
c.267C>G; p.S89R; 15:74750005-74750005 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.409C>T; p.R137W; 15:74750147-74750147 |
skin | malignant_melanoma | Substitution - Missense |
c.409C>T; p.R137W; 15:74750147-74750147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.183G>A; p.P61P; 15:74749921-74749921 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.933C>A; p.V311V; 15:74751290-74751290 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.310G>A; p.D104N; 15:74750048-74750048 |
skin | malignant_melanoma | Substitution - Missense |
c.310G>A; p.D104N; 15:74750048-74750048 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1198T>C; p.Y400H; 15:74753215-74753215 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1378G>A; p.G460R; 15:74754915-74754915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1521C>T; p.V507V; 15:74755058-74755058 |
skin | malignant_melanoma | Substitution - coding silent |
c.1463A>T; p.K488I; 15:74755000-74755000 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291C>T; p.R431W; 15:74754828-74754828 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.418G>T; p.A140S; 15:74750156-74750156 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.678C>T; p.F226F; 15:74750416-74750416 |
skin | malignant_melanoma | Substitution - coding silent |
c.236G>A; p.R79H; 15:74749974-74749974 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.678C>T; p.F226F; 15:74750416-74750416 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.678C>T; p.F226F; 15:74750416-74750416 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1096C>T; p.P366S; 15:74752177-74752177 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504G>A; p.A502T; 15:74755041-74755041 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.155G>A; p.G52E; 15:74749893-74749893 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1226T>C; p.V409A; 15:74753243-74753243 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.288G>A; p.Q96Q; 15:74750026-74750026 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.268C>T; p.R90C; 15:74750006-74750006 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |