| Gene ID | 54578 |
| Symbol | UGT1A6 |
| Synonymous | GNT1|HLUGP|HLUGP1|UDPGT|UDPGT 1-6|UGT1|UGT1A6S|UGT1F |
| Full name | UDP glucuronosyltransferase 1 family, polypeptide A6 |
| Gene description | UDP glycosyltransferase 1 family, polypeptide A6|UDP-glucuronosyltransferase 1 family polypeptide A6s|UDP-glucuronosyltransferase 1-6|UDP-glucuronosyltransferase 1-F|UDP-glucuronosyltransferase 1A6|UGT-1F|UGT1*6|UGT1-06|UGT1.6|phenol-metabolizing UDP-gluc |
| Cytoband | 2q37 |
| Gene type | protein-coding |
| Synonymous | MIM:606431; HGNC:HGNC:12538; Ensembl:ENSG00000167165; HPRD:07071; Vega:OTTHUMG00000059122 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.474C>T; p.I158I; 2:233693478-233693478 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.315A>C; p.L105L; 2:233693319-233693319 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.708C>T; p.V236V; 2:233693712-233693712 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.742C>T; p.Q248*; 2:233693746-233693746 |
skin | malignant_melanoma | Substitution - Nonsense |
c.591_592delAA; p.K198fs*17; 2:233693595-233693596 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1273G>T; p.A425S; 2:233768411-233768411 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.625G>C; p.V209L; 2:233693629-233693629 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.94G>T; p.V32F; 2:233693098-233693098 |
breast | carcinoma | Substitution - Missense |
c.1191G>A; p.M397I; 2:233768329-233768329 |
skin | malignant_melanoma | Substitution - Missense |
c.1407C>T; p.G469G; 2:233772367-233772367 |
breast | carcinoma | Substitution - coding silent |
c.490G>T; p.G164C; 2:233693494-233693494 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.101A>T; p.Q34L; 2:233693105-233693105 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246G>A; p.E416K; 2:233768384-233768384 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1292A>G; p.N431S; 2:233768430-233768430 |
liver | carcinoma | Substitution - Missense |
c.1273G>A; p.A425T; 2:233768411-233768411 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.623G>T; p.R208L; 2:233693627-233693627 |
thyroid | other; neoplasm | Substitution - Missense |
c.994-1G>A; p.?; 2:233767848-233767848 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.80A>C; p.D27A; 2:233693084-233693084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.680C>T; p.S227L; 2:233693684-233693684 |
skin | malignant_melanoma | Substitution - Missense |
c.1004G>A; p.R335Q; 2:233767859-233767859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.58C>T; p.L20F; 2:233693062-233693062 |
skin | malignant_melanoma | Substitution - Missense |
c.502G>A; p.V168M; 2:233693506-233693506 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1474G>A; p.G492S; 2:233772434-233772434 |
skin | malignant_melanoma | Substitution - Missense |
c.400G>A; p.D134N; 2:233693404-233693404 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1540C>T; p.R514W; 2:233772500-233772500 |
prostate | adenoma | Substitution - Missense |
c.1540C>T; p.R514W; 2:233772500-233772500 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.850G>T; p.D284Y; 2:233693854-233693854 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1461C>A; p.S487S; 2:233772421-233772421 |
breast | carcinoma | Substitution - coding silent |
c.106G>A; p.G36R; 2:233693110-233693110 |
skin | malignant_melanoma | Substitution - Missense |
c.513C>T; p.F171F; 2:233693517-233693517 |
skin | malignant_melanoma | Substitution - coding silent |
c.1487C>T; p.A496V; 2:233772447-233772447 |
skin | malignant_melanoma | Substitution - Missense |
c.531C>T; p.S177S; 2:233693535-233693535 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1425C>T; p.P475P; 2:233772385-233772385 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.985C>T; p.P329S; 2:233767157-233767157 |
skin | malignant_melanoma | Substitution - Missense |
c.1128T>C; p.G376G; 2:233768266-233768266 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.709C>T; p.L237F; 2:233693713-233693713 |
skin | malignant_melanoma | Substitution - Missense |
c.907G>A; p.V303I; 2:233767079-233767079 |
skin | malignant_melanoma | Substitution - Missense |
c.220A>G; p.T74A; 2:233693224-233693224 |
breast | carcinoma | Substitution - Missense |
c.1411C>T; p.P471S; 2:233772371-233772371 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.269G>A; p.R90H; 2:233693273-233693273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.129G>T; p.K43N; 2:233693133-233693133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1322G>A; p.R441H; 2:233772282-233772282 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.804G>T; p.M268I; 2:233693808-233693808 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1320G>A; p.M440I; 2:233772280-233772280 |
breast | carcinoma | Substitution - Missense |
c.205G>T; p.E69*; 2:233693209-233693209 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1408G>A; p.A470T; 2:233772368-233772368 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.221C>A; p.T74K; 2:233693225-233693225 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.552A>C; p.R184S; 2:233693556-233693556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.552A>C; p.R184S; 2:233693556-233693556 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.552A>C; p.R184S; 2:233693556-233693556 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1555A>G; p.K519E; 2:233772515-233772515 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.622C>G; p.R208G; 2:233693626-233693626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.622C>G; p.R208G; 2:233693626-233693626 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1489G>A; p.V497I; 2:233772449-233772449 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1426G>A; p.A476T; 2:233772386-233772386 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1489G>A; p.V497I; 2:233772449-233772449 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.961A>G; p.I321V; 2:233767133-233767133 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1554G>A; p.G518G; 2:233772514-233772514 |
skin | malignant_melanoma | Substitution - coding silent |
c.862G>A; p.E288K; 2:233767034-233767034 |
skin | malignant_melanoma | Substitution - Missense |
c.1003C>T; p.R335W; 2:233767858-233767858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.701C>T; p.S234L; 2:233693705-233693705 |
skin | malignant_melanoma | Substitution - Missense |
c.3G>T; p.M1I; 2:233693007-233693007 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706G>A; p.V236I; 2:233693710-233693710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.661C>A; p.L221I; 2:233693665-233693665 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1407C>G; p.G469G; 2:233772367-233772367 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1542G>A; p.R514R; 2:233772502-233772502 |
skin | malignant_melanoma | Substitution - coding silent |
c.1153G>A; p.V385I; 2:233768291-233768291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.696C>T; p.L232L; 2:233693700-233693700 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.105C>T; p.D35D; 2:233693109-233693109 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1401C>T; p.H467H; 2:233772361-233772361 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909_914delTTTCTC; p.F304_S305delFS; 2:233767081-233767086 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1162G>A; p.V388M; 2:233768300-233768300 |
skin | malignant_melanoma | Substitution - Missense |
c.1426G>T; p.A476S; 2:233772386-233772386 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1097G>A; p.R366H; 2:233768235-233768235 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.P151S; 2:233693455-233693455 |
skin | malignant_melanoma | Substitution - Missense |
c.88C>A; p.L30M; 2:233693092-233693092 |
skin | malignant_melanoma | Substitution - Missense |
c.414C>T; p.F138F; 2:233693418-233693418 |
skin | malignant_melanoma | Substitution - coding silent |
c.1026G>A; p.S342S; 2:233767881-233767881 |
skin | malignant_melanoma | Substitution - coding silent |
c.876C>T; p.Y292Y; 2:233767048-233767048 |
liver | carcinoma | Substitution - coding silent |
c.819C>T; p.F273F; 2:233693823-233693823 |
skin | malignant_melanoma | Substitution - coding silent |
c.1555delA; p.R522fs*>11; 2:233772515-233772515 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1555delA; p.R522fs*>11; 2:233772515-233772515 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.876C>T; p.Y292Y; 2:233767048-233767048 |
liver | carcinoma | Substitution - coding silent |
c.460C>T; p.P154S; 2:233693464-233693464 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.1215T>C; p.T405T; 2:233768353-233768353 |
kidney | other; neoplasm | Substitution - coding silent |
c.384C>T; p.S128S; 2:233693388-233693388 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1205G>A; p.R402H; 2:233768343-233768343 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1125T>A; p.H375Q; 2:233768263-233768263 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.857C>T; p.S286F; 2:233693861-233693861 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1317C>T; p.I439I; 2:233772277-233772277 |
skin | malignant_melanoma | Substitution - coding silent |
c.532C>A; p.L178M; 2:233693536-233693536 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.512T>A; p.F171Y; 2:233693516-233693516 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1151G>A; p.G384D; 2:233768289-233768289 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.790C>T; p.P264S; 2:233693794-233693794 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.677T>G; p.F226C; 2:233693681-233693681 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1389T>C; p.F463F; 2:233772349-233772349 |
breast | carcinoma | Substitution - coding silent |
c.622C>T; p.R208*; 2:233693626-233693626 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.622C>T; p.R208*; 2:233693626-233693626 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.640G>C; p.V214L; 2:233693644-233693644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1473T>C; p.I491I; 2:233772433-233772433 |
breast | carcinoma | Substitution - coding silent |
c.640G>C; p.V214L; 2:233693644-233693644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1245G>A; p.L415L; 2:233768383-233768383 |
skin | malignant_melanoma | Substitution - coding silent |
c.1435G>A; p.D479N; 2:233772395-233772395 |
skin | malignant_melanoma | Substitution - Missense |
c.1435G>A; p.D479N; 2:233772395-233772395 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081+8delG; p.?; 2:233767944-233767944 |
thyroid | carcinoma; anaplastic_carcinoma | Unknown |
c.1082G>T; p.G361V; 2:233768220-233768220 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1025C>T; p.S342L; 2:233767880-233767880 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1025C>T; p.S342L; 2:233767880-233767880 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1025C>T; p.S342L; 2:233767880-233767880 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025C>T; p.S342L; 2:233767880-233767880 |
skin | malignant_melanoma | Substitution - Missense |
c.627G>T; p.V209V; 2:233693631-233693631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.372C>T; p.I124I; 2:233693376-233693376 |
skin | malignant_melanoma | Substitution - coding silent |
c.147C>A; p.L49L; 2:233693151-233693151 |
breast | carcinoma | Substitution - coding silent |
c.74T>A; p.V25E; 2:233693078-233693078 |
thyroid | other; neoplasm | Substitution - Missense |
c.537G>A; p.E179E; 2:233693541-233693541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1071C>T; p.N357N; 2:233767926-233767926 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1152C>T; p.G384G; 2:233768290-233768290 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1474G>T; p.G492C; 2:233772434-233772434 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.514A>G; p.R172G; 2:233693518-233693518 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.965C>A; p.A322D; 2:233767137-233767137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.154C>T; p.R52W; 2:233693158-233693158 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.605A>T; p.H202L; 2:233693609-233693609 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1467C>T; p.D489D; 2:233772427-233772427 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.541A>G; p.T181A; 2:233693545-233693545 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1440C>T; p.L480L; 2:233772400-233772400 |
breast | carcinoma | Substitution - coding silent |
c.371T>C; p.I124T; 2:233693375-233693375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>A; p.I244I; 2:233693736-233693736 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.994-1G>C; p.?; 2:233767848-233767848 |
liver | carcinoma | Unknown |
c.1180G>T; p.G394C; 2:233768318-233768318 |
breast | carcinoma | Substitution - Missense |
c.1044G>A; p.T348T; 2:233767899-233767899 |
skin | malignant_melanoma | Substitution - coding silent |
c.1035G>A; p.A345A; 2:233767890-233767890 |
breast | carcinoma | Substitution - coding silent |
c.19T>G; p.S7A; 2:233693023-233693023 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1035G>A; p.A345A; 2:233767890-233767890 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.19T>G; p.S7A; 2:233693023-233693023 |
thyroid | other; neoplasm | Substitution - Missense |
c.19T>G; p.S7A; 2:233693023-233693023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.315A>G; p.L105L; 2:233693319-233693319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.169G>T; p.V57L; 2:233693173-233693173 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.315A>G; p.L105L; 2:233693319-233693319 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1468G>A; p.V490M; 2:233772428-233772428 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.299C>A; p.A100D; 2:233693303-233693303 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1330A>G; p.S444G; 2:233772290-233772290 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.989A>C; p.Q330P; 2:233767161-233767161 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1330A>G; p.S444G; 2:233772290-233772290 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |