Entrez Gene

Basic Information
Gene ID	4001
Name	LMNB1
Synonymous	lamin B1;LMNB1;lamin B1
Definition	lamin-B1
Position	5q23.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.391G>A; p.A131T; 5:126804807-126804807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1012A>G; p.M338V; 5:126818994-126818994	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1559C>T; p.S520L; 5:126826055-126826055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>T; p.T202I; 5:126805659-126805659	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1333G>A; p.E445K; 5:126821082-126821082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.626A>C; p.K209T; 5:126805680-126805680	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1041G>A; p.A347A; 5:126819023-126819023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1036A>C; p.M346L; 5:126819018-126819018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1006C>T; p.R336C; 5:126818988-126818988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1258G>A; p.D420N; 5:126821007-126821007	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1593G>T; p.L531F; 5:126826089-126826089	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.786G>C; p.E262D; 5:126810323-126810323	breast	carcinoma	Substitution - Missense
c.113A>G; p.E38G; 5:126777621-126777621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.834A>G; p.S278S; 5:126811793-126811793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1026_1027delAG; p.E345fs*14; 5:126819008-126819009	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536C>T; p.D512D; 5:126826032-126826032	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.540_541insA; p.Q183fs*5; 5:126805594-126805595	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1548G>C; p.K516N; 5:126826044-126826044	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1112A>G; p.D371G; 5:126819094-126819094	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.431C>T; p.S144L; 5:126804847-126804847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1247G>T; p.R416L; 5:126820996-126820996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1539C>A; p.L513L; 5:126826035-126826035	skin	malignant_melanoma	Substitution - coding silent
c.1162T>C; p.L388L; 5:126820911-126820911	prostate	carcinoma	Substitution - coding silent
c.817G>C; p.E273Q; 5:126811776-126811776	urinary_tract; bladder	carcinoma	Substitution - Missense
c.468A>C; p.K156N; 5:126804884-126804884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.925A>C; p.N309H; 5:126811884-126811884	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.95_97delAGA; p.K33delK; 5:126777603-126777605	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.469A>C; p.K157Q; 5:126804885-126804885	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1140C>T; p.L380L; 5:126819122-126819122	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1192G>A; p.V398M; 5:126820941-126820941	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.465_466insA; p.S158fs*30; 5:126804881-126804882	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1379C>T; p.S460F; 5:126821128-126821128	thyroid	other; neoplasm	Substitution - Missense
c.1010G>A; p.R337H; 5:126818992-126818992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1010G>A; p.R337H; 5:126818992-126818992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.651C>T; p.N217N; 5:126810188-126810188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.464A>G; p.D155G; 5:126804880-126804880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.863G>A; p.S288N; 5:126811822-126811822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.465C>G; p.D155E; 5:126804881-126804881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.556G>A; p.D186N; 5:126805610-126805610	pancreas	carcinoma	Substitution - Missense
c.1639A>T; p.K547*; 5:126832721-126832721	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1358T>G; p.F453C; 5:126821107-126821107	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.857T>C; p.V286A; 5:126811816-126811816	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1560G>A; p.S520S; 5:126826056-126826056	liver	carcinoma	Substitution - coding silent
c.1348G>C; p.D450H; 5:126821097-126821097	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1107C>T; p.A369A; 5:126819089-126819089	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.522A>C; p.E174D; 5:126805576-126805576	kidney	other; neoplasm	Substitution - Missense
c.1558T>C; p.S520P; 5:126826054-126826054	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1349A>G; p.D450G; 5:126821098-126821098	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1065A>T; p.Q355H; 5:126819047-126819047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.939+2T>C; p.?; 5:126811900-126811900	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1662G>A; p.E554E; 5:126832744-126832744	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1662G>A; p.E554E; 5:126832744-126832744	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1478G>A; p.G493D; 5:126822872-126822872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.R402*; 5:126820953-126820953	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.316G>A; p.E106K; 5:126777824-126777824	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1254G>A; p.R418R; 5:126821003-126821003	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1225G>C; p.V409L; 5:126820974-126820974	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.758A>G; p.H253R; 5:126810295-126810295	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1228C>T; p.R410C; 5:126820977-126820977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.675G>A; p.T225T; 5:126810212-126810212	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.675G>A; p.T225T; 5:126810212-126810212	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.675G>A; p.T225T; 5:126810212-126810212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.298C>A; p.R100S; 5:126777806-126777806	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.726_727GG>AA; p.L242>?; 5:126810263-126810264	skin; trunk	malignant_melanoma	Complex
c.269G>A; p.R90Q; 5:126777777-126777777	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1280G>T; p.S427I; 5:126821029-126821029	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1221T>C; p.R407R; 5:126820970-126820970	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.604A>T; p.T202S; 5:126805658-126805658	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.980T>C; p.L327S; 5:126818962-126818962	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1479C>T; p.G493G; 5:126822873-126822873	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.634T>C; p.Y212H; 5:126805688-126805688	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1732G>A; p.A578T; 5:126836235-126836235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1672G>A; p.E558K; 5:126832754-126832754	skin	malignant_melanoma	Substitution - Missense
c.1584G>A; p.K528K; 5:126826080-126826080	liver	carcinoma	Substitution - coding silent
c.1584G>A; p.K528K; 5:126826080-126826080	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.548_551delAGTT; p.L184fs*8; 5:126805602-126805605	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.636T>C; p.Y212Y; 5:126805690-126805690	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065A>G; p.Q355Q; 5:126819047-126819047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.436G>T; p.D146Y; 5:126804852-126804852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1440C>T; p.V480V; 5:126822834-126822834	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1025_1026insAG; p.M346fs*5; 5:126819007-126819008	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.205G>A; p.E69K; 5:126777713-126777713	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.111C>A; p.R37R; 5:126777619-126777619	kidney	carcinoma; renal_cell_carcinoma	Substitution - coding silent
c.1700A>G; p.E567G; 5:126832782-126832782	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1445A>T; p.Y482F; 5:126822839-126822839	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]