| Gene ID | 6097 |
| Symbol | RORC |
| Synonymous | NR1F3|RORG|RZR-GAMMA|RZRG|TOR |
| Full name | RAR-related orphan receptor C |
| Gene description | RAR-related orphan nuclear receptor variant 2|nuclear receptor ROR-gamma|nuclear receptor RZR-gamma|nuclear receptor subfamily 1 group F member 3|retinoic acid-binding receptor gamma|retinoid-related orphan receptor gamma |
| Cytoband | 1q21 |
| Gene type | protein-coding |
| Synonymous | MIM:602943; HGNC:HGNC:10260; Ensembl:ENSG00000143365; HPRD:04250; Vega:OTTHUMG00000013053 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1455C>T; p.I485I; 1:151807574-151807574 |
skin | malignant_melanoma | Substitution - coding silent |
c.963C>A; p.A321A; 1:151813591-151813591 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1106A>G; p.Y369C; 1:151813307-151813307 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.807G>T; p.E269D; 1:151814917-151814917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.516T>C; p.C172C; 1:151815208-151815208 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.291_292CC>TT; p.R98*; 1:151816670-151816671 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.590G>A; p.G197E; 1:151815134-151815134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1488C>A; p.A496A; 1:151807541-151807541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1002C>T; p.F334F; 1:151813552-151813552 |
skin | malignant_melanoma | Substitution - coding silent |
c.1241A>T; p.E414V; 1:151812991-151812991 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.130G>A; p.G44R; 1:151817221-151817221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.754G>T; p.G252C; 1:151814970-151814970 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.700G>A; p.E234K; 1:151815024-151815024 |
skin | malignant_melanoma | Substitution - Missense |
c.666C>T; p.S222S; 1:151815058-151815058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1120C>T; p.R374C; 1:151813293-151813293 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1120C>T; p.R374C; 1:151813293-151813293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1211C>T; p.S404F; 1:151813021-151813021 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1211C>T; p.S404F; 1:151813021-151813021 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504T>A; p.Y502N; 1:151807525-151807525 |
liver | carcinoma | Substitution - Missense |
c.1288C>T; p.R430W; 1:151811432-151811432 |
kidney | other; neoplasm | Substitution - Missense |
c.40G>A; p.E14K; 1:151831725-151831725 |
breast | carcinoma | Substitution - Missense |
c.292C>T; p.R98*; 1:151816670-151816670 |
pancreas | carcinoma | Substitution - Nonsense |
c.1008G>A; p.K336K; 1:151813546-151813546 |
liver | carcinoma | Substitution - coding silent |
c.1010G>A; p.R337K; 1:151813544-151813544 |
skin | malignant_melanoma | Substitution - Missense |
c.518C>T; p.P173L; 1:151815206-151815206 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.310G>A; p.G104S; 1:151815414-151815414 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.310G>A; p.G104S; 1:151815414-151815414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1130T>A; p.F377Y; 1:151813283-151813283 |
skin | malignant_melanoma | Substitution - Missense |
c.1285C>T; p.H429Y; 1:151812947-151812947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.725G>T; p.G242V; 1:151814999-151814999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.625G>A; p.G209S; 1:151815099-151815099 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.465C>T; p.D155D; 1:151815259-151815259 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.465C>T; p.D155D; 1:151815259-151815259 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.465C>T; p.D155D; 1:151815259-151815259 |
pancreas | carcinoma | Substitution - coding silent |
c.461C>T; p.P154L; 1:151815263-151815263 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.114G>A; p.S38S; 1:151817237-151817237 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1146C>T; p.Y382Y; 1:151813267-151813267 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1203T>A; p.F401L; 1:151813029-151813029 |
skin | malignant_melanoma | Substitution - Missense |
c.1146C>T; p.Y382Y; 1:151813267-151813267 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.551C>T; p.P184L; 1:151815173-151815173 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.794C>T; p.A265V; 1:151814930-151814930 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1481T>C; p.V494A; 1:151807548-151807548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1200C>A; p.I400I; 1:151813032-151813032 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.488C>T; p.S163L; 1:151815236-151815236 |
skin | malignant_melanoma | Substitution - Missense |
c.278C>A; p.A93E; 1:151816684-151816684 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.35C>T; p.S12L; 1:151831730-151831730 |
skin | malignant_melanoma | Substitution - Missense |
c.1476C>T; p.I492I; 1:151807553-151807553 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.278C>A; p.A93E; 1:151816684-151816684 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.661G>A; p.G221S; 1:151815063-151815063 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1162T>C; p.F388L; 1:151813251-151813251 |
skin | malignant_melanoma | Substitution - Missense |
c.624G>A; p.R208R; 1:151815100-151815100 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1148G>A; p.G383D; 1:151813265-151813265 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034G>A; p.C345Y; 1:151813520-151813520 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1318G>A; p.E440K; 1:151811402-151811402 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1155G>A; p.M385I; 1:151813258-151813258 |
skin | malignant_melanoma | Substitution - Missense |
c.531G>A; p.L177L; 1:151815193-151815193 |
breast | carcinoma | Substitution - coding silent |
c.502G>A; p.E168K; 1:151815222-151815222 |
breast | carcinoma | Substitution - Missense |
c.1488C>T; p.A496A; 1:151807541-151807541 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1532A>T; p.E511V; 1:151807497-151807497 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.501T>A; p.P167P; 1:151815223-151815223 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.263T>C; p.L88P; 1:151816699-151816699 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.29G>A; p.R10Q; 1:151831736-151831736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.695G>A; p.R232H; 1:151815029-151815029 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.999G>A; p.E333E; 1:151813555-151813555 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.942G>A; p.W314*; 1:151813612-151813612 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1067-2A>G; p.?; 1:151813348-151813348 |
ovary | other; neoplasm | Unknown |
c.1169C>T; p.A390V; 1:151813244-151813244 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1480G>T; p.V494F; 1:151807549-151807549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1114G>A; p.D372N; 1:151813299-151813299 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1262C>T; p.T421I; 1:151812970-151812970 |
liver | carcinoma | Substitution - Missense |
c.1262C>T; p.T421I; 1:151812970-151812970 |
liver | carcinoma | Substitution - Missense |
c.1178G>A; p.C393Y; 1:151813054-151813054 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1482C>T; p.V494V; 1:151807547-151807547 |
skin | malignant_melanoma | Substitution - coding silent |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1256T>A; p.L419H; 1:151812976-151812976 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1183G>A; p.E395K; 1:151813049-151813049 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1530C>T; p.T510T; 1:151807499-151807499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | Substitution - coding silent |
c.1530C>T; p.T510T; 1:151807499-151807499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.863G>A; p.R288Q; 1:151814644-151814644 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.223_224insA; p.I75fs*91; 1:151816738-151816739 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1288C>A; p.R430R; 1:151811432-151811432 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.105G>A; p.G35G; 1:151817246-151817246 |
skin | malignant_melanoma | Substitution - coding silent |
c.651C>A; p.F217L; 1:151815073-151815073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.655A>G; p.S219G; 1:151815069-151815069 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275C>T; p.L425L; 1:151812957-151812957 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1275C>T; p.L425L; 1:151812957-151812957 |
skin | malignant_melanoma | Substitution - coding silent |
c.48G>T; p.L16L; 1:151829451-151829451 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.428G>A; p.G143E; 1:151815296-151815296 |
skin | malignant_melanoma | Substitution - Missense |
c.829G>A; p.V277I; 1:151814678-151814678 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.423C>T; p.A141A; 1:151815301-151815301 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1193G>A; p.S398N; 1:151813039-151813039 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.683G>A; p.R228Q; 1:151815041-151815041 |
skin | malignant_melanoma | Substitution - Missense |
c.683G>A; p.R228Q; 1:151815041-151815041 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.683G>A; p.R228Q; 1:151815041-151815041 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.683G>A; p.R228Q; 1:151815041-151815041 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1266C>T; p.A422A; 1:151812966-151812966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.39G>A; p.R13R; 1:151831726-151831726 |
skin | malignant_melanoma | Substitution - coding silent |
c.636G>A; p.E212E; 1:151815088-151815088 |
skin | malignant_melanoma | Substitution - coding silent |
c.1477G>A; p.V493M; 1:151807552-151807552 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13_14CC>TT; p.P5L; 1:151831751-151831752 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1124C>T; p.T375M; 1:151813289-151813289 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.980C>A; p.A327D; 1:151813574-151813574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.129C>T; p.Y43Y; 1:151817222-151817222 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.504G>T; p.E168D; 1:151815220-151815220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.112T>C; p.S38P; 1:151817239-151817239 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.979G>T; p.A327S; 1:151813575-151813575 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.157G>A; p.G53S; 1:151816805-151816805 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1531G>T; p.E511*; 1:151807498-151807498 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.557A>T; p.Y186F; 1:151815167-151815167 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1099C>T; p.R367W; 1:151813314-151813314 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.755G>A; p.G252D; 1:151814969-151814969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1099C>T; p.R367W; 1:151813314-151813314 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045C>A; p.Q349K; 1:151813509-151813509 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.372G>C; p.Q124H; 1:151815352-151815352 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.149_150GG>AA; p.G50E; 1:151817201-151817202 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1246G>A; p.E416K; 1:151812986-151812986 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.779C>T; p.P260L; 1:151814945-151814945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.828C>T; p.S276S; 1:151814679-151814679 |
pancreas | carcinoma | Substitution - coding silent |
c.617C>A; p.P206H; 1:151815107-151815107 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.617C>A; p.P206H; 1:151815107-151815107 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.779C>T; p.P260L; 1:151814945-151814945 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1032C>G; p.L344L; 1:151813522-151813522 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1032C>G; p.L344L; 1:151813522-151813522 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.933G>A; p.K311K; 1:151814574-151814574 |
skin | malignant_melanoma | Substitution - coding silent |
c.229C>T; p.R77C; 1:151816733-151816733 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.170G>A; p.R57Q; 1:151816792-151816792 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.902C>T; p.S301F; 1:151814605-151814605 |
pancreas | carcinoma | Substitution - Missense |
c.170G>A; p.R57Q; 1:151816792-151816792 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.902C>T; p.S301F; 1:151814605-151814605 |
pancreas | carcinoma | Substitution - Missense |
c.4G>A; p.D2N; 1:151831761-151831761 |
skin | malignant_melanoma | Substitution - Missense |
c.166C>T; p.R56C; 1:151816796-151816796 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.41-1G>A; p.?; 1:151829459-151829459 |
urinary_tract; bladder | carcinoma | Unknown |
c.1049T>G; p.I350S; 1:151813505-151813505 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.433G>C; p.D145H; 1:151815291-151815291 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1336C>A; p.L446M; 1:151811384-151811384 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.847G>A; p.E283K; 1:151814660-151814660 |
breast | carcinoma | Substitution - Missense |