| Gene ID | 2908 |
| Symbol | NR3C1 |
| Synonymous | GCCR|GCR|GCRST|GR|GRL |
| Full name | nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) |
| Gene description | glucocorticoid nuclear receptor variant 1|glucocorticoid receptor |
| Cytoband | 5q31.3 |
| Gene type | protein-coding |
| Synonymous | MIM:138040; HGNC:HGNC:7978; Ensembl:ENSG00000113580; HPRD:00679; Vega:OTTHUMG00000129677 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2317C>A; p.L773I; 5:143281909-143281909 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.822C>T; p.P274P; 5:143400018-143400018 |
skin | malignant_melanoma | Substitution - coding silent |
c.176delG; p.R59fs*12; 5:143400664-143400664 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.407C>T; p.P136L; 5:143400433-143400433 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2316delA; p.K772fs*>7; 5:143281910-143281910 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.481T>G; p.S161A; 5:143400359-143400359 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1365T>G; p.N455K; 5:143310203-143310203 |
liver | carcinoma | Substitution - Missense |
c.1365T>G; p.N455K; 5:143310203-143310203 |
liver | carcinoma | Substitution - Missense |
c.722C>T; p.S241L; 5:143400118-143400118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.959C>A; p.S320Y; 5:143399881-143399881 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.959C>A; p.S320Y; 5:143399881-143399881 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2262A>T; p.L754F; 5:143281964-143281964 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1075G>A; p.V359I; 5:143399765-143399765 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.218C>T; p.A73V; 5:143400622-143400622 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1688C>T; p.T563M; 5:143300547-143300547 |
breast | carcinoma | Substitution - Missense |
c.1070T>C; p.I357T; 5:143399770-143399770 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2177T>C; p.M726T; 5:143282575-143282575 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1244G>T; p.G415V; 5:143314109-143314109 |
prostate | adenoma | Substitution - Missense |
c.316C>T; p.Q106*; 5:143400524-143400524 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1575G>T; p.T525T; 5:143300660-143300660 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2318T>C; p.L773P; 5:143281908-143281908 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1815G>C; p.M605I; 5:143298748-143298748 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2318T>C; p.L773P; 5:143281908-143281908 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2318T>C; p.L773P; 5:143281908-143281908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1492_1493insA; p.I498fs*17; 5:143300742-143300743 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2318T>C; p.L773P; 5:143281908-143281908 |
large_intestine; rectum | NS | Substitution - Missense |
c.606G>A; p.G202G; 5:143400234-143400234 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2334G>A; p.K778K; 5:143281892-143281892 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.661G>A; p.E221K; 5:143400179-143400179 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.630G>A; p.E210E; 5:143400210-143400210 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1475G>A; p.R492Q; 5:143300760-143300760 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.151G>A; p.A51T; 5:143400689-143400689 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.151G>A; p.A51T; 5:143400689-143400689 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.1575G>A; p.T525T; 5:143300660-143300660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.755A>G; p.D252G; 5:143400085-143400085 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1897C>T; p.Q633*; 5:143295589-143295589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.242C>T; p.A81V; 5:143400598-143400598 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2254G>A; p.E752K; 5:143281972-143281972 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1592C>T; p.P531L; 5:143300643-143300643 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408C>T; p.R470*; 5:143310160-143310160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1408C>T; p.R470*; 5:143310160-143310160 |
breast | carcinoma | Substitution - Nonsense |
c.2271C>A; p.I757I; 5:143281955-143281955 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.892G>C; p.G298R; 5:143399948-143399948 |
ovary | other; neoplasm | Substitution - Missense |
c.892G>C; p.G298R; 5:143399948-143399948 |
ovary | other; neoplasm | Substitution - Missense |
c.146C>T; p.A49V; 5:143400694-143400694 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2279delA; p.N760fs*>19; 5:143281947-143281947 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.2128A>T; p.S710C; 5:143282624-143282624 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.982_983GG>AA; p.G328K; 5:143399857-143399858 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.107G>T; p.G36V; 5:143400733-143400733 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1400A>C; p.D467A; 5:143310168-143310168 |
skin | malignant_melanoma | Substitution - Missense |
c.1402A>G; p.K468E; 5:143310166-143310166 |
pancreas | carcinoma | Substitution - Missense |
c.1784C>T; p.T595I; 5:143298779-143298779 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1621G>T; p.E541*; 5:143300614-143300614 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1567C>A; p.P523T; 5:143300668-143300668 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.26C>A; p.P9H; 5:143400814-143400814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.905G>T; p.C302F; 5:143399935-143399935 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.355T>G; p.L119V; 5:143400485-143400485 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1213C>A; p.P405T; 5:143314140-143314140 |
skin | malignant_melanoma | Substitution - Missense |
c.1438C>T; p.R480*; 5:143310130-143310130 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.953C>T; p.A318V; 5:143399887-143399887 |
liver | carcinoma | Substitution - Missense |
c.1317A>G; p.G439G; 5:143314036-143314036 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2303G>C; p.G768A; 5:143281923-143281923 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2316_2317insA; p.L773fs*>7; 5:143281909-143281910 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1848A>G; p.Q616Q; 5:143298715-143298715 |
liver | carcinoma | Substitution - coding silent |
c.1661C>T; p.P554L; 5:143300574-143300574 |
skin | malignant_melanoma | Substitution - Missense |
c.1558A>C; p.T520P; 5:143300677-143300677 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.251T>G; p.L84R; 5:143400589-143400589 |
breast | carcinoma | Substitution - Missense |
c.1031A>G; p.Q344R; 5:143399809-143399809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.792T>G; p.V264V; 5:143400048-143400048 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.655A>C; p.I219L; 5:143400185-143400185 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.665A>C; p.N222T; 5:143400175-143400175 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.840A>C; p.K280N; 5:143400000-143400000 |
kidney | other; neoplasm | Substitution - Missense |
c.840A>C; p.K280N; 5:143400000-143400000 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.740C>T; p.P247L; 5:143400100-143400100 |
skin | malignant_melanoma | Substitution - Missense |
c.420G>T; p.K140N; 5:143400420-143400420 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2053G>T; p.E685*; 5:143282699-143282699 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1531G>T; p.E511*; 5:143300704-143300704 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.971T>A; p.V324E; 5:143399869-143399869 |
skin | malignant_melanoma | Substitution - Missense |
c.691G>A; p.E231K; 5:143400149-143400149 |
pancreas | carcinoma | Substitution - Missense |
c.1767C>G; p.H589Q; 5:143298796-143298796 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.853G>A; p.E285K; 5:143399987-143399987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.375C>T; p.S125S; 5:143400465-143400465 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1106G>T; p.G369V; 5:143399734-143399734 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.272G>A; p.G91E; 5:143400568-143400568 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.852C>T; p.I284I; 5:143399988-143399988 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.852C>T; p.I284I; 5:143399988-143399988 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2037C>T; p.D679D; 5:143282715-143282715 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1815G>A; p.M605I; 5:143298748-143298748 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.686C>T; p.A229V; 5:143400154-143400154 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1421G>T; p.C474F; 5:143310147-143310147 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1112G>T; p.G371V; 5:143399728-143399728 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1288G>T; p.G430*; 5:143314065-143314065 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.125C>A; p.S42Y; 5:143400715-143400715 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.340_341insG; p.S114fs*18; 5:143400499-143400500 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - Frameshift |
c.635C>A; p.P212H; 5:143400205-143400205 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.687G>T; p.A229A; 5:143400153-143400153 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1015G>T; p.A339S; 5:143399825-143399825 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.27T>C; p.P9P; 5:143400813-143400813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2320C>A; p.L774M; 5:143281906-143281906 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912C>A; p.P638T; 5:143295574-143295574 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2174C>A; p.S725Y; 5:143282578-143282578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1708C>T; p.R570W; 5:143300527-143300527 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1708C>T; p.R570W; 5:143300527-143300527 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.161C>G; p.S54*; 5:143400679-143400679 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.395C>T; p.S132L; 5:143400445-143400445 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.519G>C; p.Q173H; 5:143400321-143400321 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2301T>C; p.N767N; 5:143281925-143281925 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.835G>C; p.E279Q; 5:143400005-143400005 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.519G>C; p.Q173H; 5:143400321-143400321 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.123T>G; p.V41V; 5:143400717-143400717 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.922G>T; p.G308*; 5:143399918-143399918 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1125G>A; p.L375L; 5:143399715-143399715 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1765C>A; p.H589N; 5:143298798-143298798 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1125G>A; p.L375L; 5:143399715-143399715 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1177T>C; p.Y393H; 5:143399663-143399663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.642A>G; p.R214R; 5:143400198-143400198 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3G>T; p.M1I; 5:143400837-143400837 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1989G>T; p.E663D; 5:143295497-143295497 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.450C>T; p.A150A; 5:143400390-143400390 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1423C>T; p.P475S; 5:143310145-143310145 |
skin | malignant_melanoma | Substitution - Missense |
c.1297T>C; p.Y433H; 5:143314056-143314056 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1465C>T; p.L489L; 5:143310103-143310103 |
skin | malignant_melanoma | Substitution - coding silent |
c.457G>A; p.E153K; 5:143400383-143400383 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1574C>T; p.T525M; 5:143300661-143300661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.906T>A; p.C302*; 5:143399934-143399934 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1409G>A; p.R470Q; 5:143310159-143310159 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2195A>C; p.N732T; 5:143282031-143282031 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1148T>C; p.F383S; 5:143399692-143399692 |
liver | carcinoma | Substitution - Missense |
c.843_845delAGA; p.E281delE; 5:143399995-143399997 |
liver | carcinoma | Deletion - In frame |
c.501G>A; p.Q167Q; 5:143400339-143400339 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |