Entrez Gene

Basic Information
Gene ID	7376
Name	NR1H2
Synonymous	nuclear receptor subfamily 1, group H, member 2;NR1H2;nuclear receptor subfamily 1, group H, member 2
Definition	LX receptor beta\|liver X nuclear receptor beta\|nuclear orphan receptor LXR-beta\|nuclear receptor NER\|oxysterols receptor LXR-beta\|steroid hormone-nuclear receptor NER\|ubiquitously-expressed nuclear receptor
Position	19q13.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.981_983delCTT; p.F328delF; 19:50379833-50379835	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1049A>T; p.N350I; 19:50381987-50381987	breast	carcinoma	Substitution - Missense
c.1049A>T; p.N350I; 19:50381987-50381987	breast	carcinoma	Substitution - Missense
c.283T>C; p.S95P; 19:50378250-50378250	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.484G>A; p.E162K; 19:50378533-50378533	urinary_tract; bladder	carcinoma	Substitution - Missense
c.275A>T; p.D92V; 19:50378242-50378242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.719G>A; p.R240H; 19:50378768-50378768	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.788G>A; p.R263H; 19:50379042-50379042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.482C>G; p.S161C; 19:50378531-50378531	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.578C>A; p.S193*; 19:50378627-50378627	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.94G>A; p.E32K; 19:50377783-50377783	urinary_tract; bladder	carcinoma	Substitution - Missense
c.625C>A; p.Q209K; 19:50378674-50378674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.763G>A; p.A255T; 19:50379017-50379017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.763G>A; p.A255T; 19:50379017-50379017	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.577T>C; p.S193P; 19:50378626-50378626	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.23C>T; p.S8F; 19:50377628-50377628	skin	malignant_melanoma	Substitution - Missense
c.103C>T; p.P35S; 19:50377792-50377792	skin	malignant_melanoma	Substitution - Missense
c.82C>G; p.P28A; 19:50377771-50377771	ovary	other; neoplasm	Substitution - Missense
c.275A>G; p.D92G; 19:50378242-50378242	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.118delG; p.G41fs*114; 19:50377807-50377807	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.497G>A; p.R166Q; 19:50378546-50378546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497G>A; p.R166Q; 19:50378546-50378546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.662C>A; p.A221E; 19:50378711-50378711	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.316G>T; p.G106C; 19:50378283-50378283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385G>A; p.G129R; 19:50378352-50378352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.37delC; p.L13fs*18; 19:50377642-50377642	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.778C>T; p.R260*; 19:50379032-50379032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.312C>T; p.C104C; 19:50378279-50378279	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.517_518insGAC; p.K172_Q173insR; 19:50378566-50378567	lung	carcinoma; non_small_cell_carcinoma	Insertion - In frame
c.940G>C; p.E314Q; 19:50379792-50379792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.376C>T; p.R126W; 19:50378343-50378343	breast	carcinoma	Substitution - Missense
c.1358C>T; p.S453L; 19:50382577-50382577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853G>A; p.A285T; 19:50379107-50379107	pancreas	carcinoma	Substitution - Missense
c.873C>T; p.F291F; 19:50379127-50379127	skin	malignant_melanoma	Substitution - coding silent
c.993C>T; p.D331D; 19:50379845-50379845	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.723_725delCTT; p.F242delF; 19:50378772-50378774	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.1305G>A; p.S435S; 19:50382524-50382524	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.67G>A; p.A23T; 19:50377756-50377756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.286G>A; p.G96S; 19:50378253-50378253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.196G>A; p.E66K; 19:50378163-50378163	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.560C>T; p.P187L; 19:50378609-50378609	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.69C>T; p.A23A; 19:50377758-50377758	skin	malignant_melanoma	Substitution - coding silent
c.253G>A; p.E85K; 19:50378220-50378220	skin	malignant_melanoma	Substitution - Missense
c.212G>A; p.R71H; 19:50378179-50378179	breast	carcinoma	Substitution - Missense
c.694G>A; p.A232T; 19:50378743-50378743	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.600C>T; p.S200S; 19:50378649-50378649	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1306G>T; p.E436*; 19:50382525-50382525	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.525G>A; p.Q175Q; 19:50378574-50378574	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	breast	carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.516_517insCAG; p.Q175_E176insQ; 19:50378565-50378566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.514_515insAAC; p.Q175_E176insQ; 19:50378563-50378564	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.1215C>G; p.Y405*; 19:50382153-50382153	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.32delC; p.L13fs*18; 19:50377637-50377637	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.32delC; p.L13fs*18; 19:50377637-50377637	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.843C>T; p.I281I; 19:50379097-50379097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1307A>T; p.E436V; 19:50382526-50382526	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.303G>A; p.V101V; 19:50378270-50378270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1038G>A; p.V346V; 19:50381976-50381976	liver	carcinoma	Substitution - coding silent
c.643G>A; p.E215K; 19:50378692-50378692	breast	carcinoma	Substitution - Missense
c.796C>T; p.R266C; 19:50379050-50379050	breast	carcinoma	Substitution - Missense
c.349C>T; p.R117C; 19:50378316-50378316	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.66C>T; p.G22G; 19:50377755-50377755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.415C>T; p.R139C; 19:50378382-50378382	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.771C>T; p.P257P; 19:50379025-50379025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1374C>T; p.V458V; 19:50382593-50382593	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.901G>A; p.A301T; 19:50379155-50379155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.467A>G; p.E156G; 19:50378434-50378434	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1069C>T; p.R357W; 19:50382007-50382007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.667C>T; p.Q223*; 19:50378716-50378716	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.75T>G; p.S25S; 19:50377764-50377764	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.237G>A; p.P79P; 19:50378204-50378204	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.708G>A; p.Q236Q; 19:50378757-50378757	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.519G>A; p.Q173Q; 19:50378568-50378568	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.519G>A; p.Q173Q; 19:50378568-50378568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1246C>T; p.R416C; 19:50382465-50382465	stomach	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]