Entrez Gene

Basic Information
Gene ID	4683
Name	NBN
Synonymous	nibrin;NBN;nibrin
Definition	Nijmegen breakage syndrome 1 (nibrin)\|cell cycle regulatory protein p95\|p95 protein of the MRE11/RAD50 complex
Position	8q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.904C>A; p.L302I; 8:89964500-89964500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1966T>C; p.L656L; 8:89946244-89946244	thyroid	carcinoma	Substitution - coding silent
c.851A>G; p.D284G; 8:89970409-89970409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1828G>A; p.E610K; 8:89953261-89953261	breast	carcinoma	Substitution - Missense
c.850G>C; p.D284H; 8:89970410-89970410	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.557C>T; p.S186F; 8:89978247-89978247	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1036G>A; p.V346M; 8:89958813-89958813	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1681G>A; p.E561K; 8:89953408-89953408	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1932G>A; p.Q644Q; 8:89946278-89946278	skin	malignant_melanoma	Substitution - coding silent
c.1253C>A; p.S418*; 8:89955427-89955427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.102G>A; p.L34L; 8:89982791-89982791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2134C>T; p.H712Y; 8:89943303-89943303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.104T>C; p.I35T; 8:89982789-89982789	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.720C>T; p.S240S; 8:89970540-89970540	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.658C>G; p.Q220E; 8:89971217-89971217	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.948C>A; p.F316L; 8:89964456-89964456	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1165A>G; p.M389V; 8:89955515-89955515	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1296A>G; p.S432S; 8:89955384-89955384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1296A>G; p.S432S; 8:89955384-89955384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1296A>G; p.S432S; 8:89955384-89955384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1844C>T; p.S615F; 8:89953245-89953245	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1844C>T; p.S615F; 8:89953245-89953245	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.204A>G; p.L68L; 8:89981491-89981491	kidney	other; neoplasm	Substitution - coding silent
c.2141G>T; p.R714L; 8:89943296-89943296	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1915-7A>G; p.?; 8:89946302-89946302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1709C>G; p.T570R; 8:89953380-89953380	liver	carcinoma	Substitution - Missense
c.325G>A; p.E109K; 8:89980889-89980889	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1709C>G; p.T570R; 8:89953380-89953380	liver	carcinoma	Substitution - Missense
c.373_378>C; p.K125fs*34; 8:89980836-89980841	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex - frameshift
c.705T>G; p.H235Q; 8:89970555-89970555	liver	carcinoma	Substitution - Missense
c.705T>G; p.H235Q; 8:89970555-89970555	liver	carcinoma	Substitution - Missense
c.308delG; p.G103fs*6; 8:89981387-89981387	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.366C>G; p.V122V; 8:89980848-89980848	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.645G>A; p.R215R; 8:89971230-89971230	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1914+1G>A; p.?; 8:89947823-89947823	liver	carcinoma	Unknown
c.516A>G; p.V172V; 8:89978288-89978288	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1340C>A; p.S447Y; 8:89955340-89955340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.22G>A; p.A8T; 8:89984540-89984540	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.657A>T; p.K219N; 8:89971218-89971218	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1398-10T>A; p.?; 8:89953701-89953701	pancreas	carcinoma	Unknown
c.503G>T; p.G168V; 8:89978301-89978301	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.D272N; 8:89970446-89970446	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1454C>T; p.T485M; 8:89953635-89953635	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1992T>G; p.I664M; 8:89946218-89946218	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1471G>T; p.E491*; 8:89953618-89953618	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.1535A>G; p.E512G; 8:89953554-89953554	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.16C>T; p.P6S; 8:89984546-89984546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.896_896+1GG>AA; p.?; 8:89970363-89970364	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2062T>G; p.F688V; 8:89946148-89946148	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1010C>T; p.T337I; 8:89958839-89958839	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1915-1G>A; p.?; 8:89946296-89946296	kidney	other; neoplasm	Unknown
c.965A>G; p.Y322C; 8:89964439-89964439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.653G>T; p.R218I; 8:89971222-89971222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1115C>T; p.A372V; 8:89958734-89958734	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2025A>G; p.I675M; 8:89946185-89946185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.803C>T; p.T268M; 8:89970457-89970457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1959G>T; p.K653N; 8:89946251-89946251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1982C>A; p.S661*; 8:89946228-89946228	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.459A>G; p.V153V; 8:89980755-89980755	liver	carcinoma	Substitution - coding silent
c.459A>G; p.V153V; 8:89980755-89980755	liver	carcinoma	Substitution - coding silent
c.404T>C; p.L135P; 8:89980810-89980810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1147G>T; p.E383*; 8:89955533-89955533	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1464T>G; p.S488S; 8:89953625-89953625	liver	carcinoma	Substitution - coding silent
c.940G>A; p.V314M; 8:89964464-89964464	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1689G>T; p.L563F; 8:89953400-89953400	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1398-10delT; p.?; 8:89953701-89953701	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1197T>C; p.D399D; 8:89955483-89955483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.891C>T; p.L297L; 8:89970369-89970369	skin	malignant_melanoma	Substitution - coding silent
c.1618C>A; p.H540N; 8:89953471-89953471	breast	carcinoma	Substitution - Missense
c.1458T>C; p.S486S; 8:89953631-89953631	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1577C>T; p.T526I; 8:89953512-89953512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1911A>G; p.I637M; 8:89947827-89947827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1577C>T; p.T526I; 8:89953512-89953512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2128G>T; p.A710S; 8:89943309-89943309	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2128G>T; p.A710S; 8:89943309-89943309	large_intestine; colon	carcinoma	Substitution - Missense
c.2128G>T; p.A710S; 8:89943309-89943309	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1396delA; p.R466fs*18; 8:89955284-89955284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1396delA; p.R466fs*18; 8:89955284-89955284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1396delA; p.R466fs*18; 8:89955284-89955284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1396delA; p.R466fs*18; 8:89955284-89955284	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1396delA; p.R466fs*18; 8:89955284-89955284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1396delA; p.R466fs*18; 8:89955284-89955284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1396delA; p.R466fs*18; 8:89955284-89955284	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1396delA; p.R466fs*18; 8:89955284-89955284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.541C>A; p.L181M; 8:89978263-89978263	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1936G>T; p.D646Y; 8:89946274-89946274	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.666C>T; p.F222F; 8:89971209-89971209	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.964T>C; p.Y322H; 8:89964440-89964440	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1651delA; p.R551fs*8; 8:89953438-89953438	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2035T>C; p.Y679H; 8:89946175-89946175	kidney	carcinoma	Substitution - Missense
c.1651delA; p.R551fs*8; 8:89953438-89953438	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1651delA; p.R551fs*8; 8:89953438-89953438	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1497A>G; p.S499S; 8:89953592-89953592	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2209G>C; p.E737Q; 8:89937051-89937051	urinary_tract; bladder	carcinoma	Substitution - Missense
c.360_361AG>GA; p.D121N; 8:89980853-89980854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.50G>C; p.R17T; 8:89982843-89982843	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.585T>A; p.S195R; 8:89971290-89971290	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2192delA; p.N731fs*20; 8:89937068-89937068	kidney	carcinoma	Deletion - Frameshift
c.128G>A; p.R43Q; 8:89982765-89982765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1870C>T; p.R624C; 8:89947868-89947868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1253C>G; p.S418*; 8:89955427-89955427	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.128G>A; p.R43Q; 8:89982765-89982765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1253C>G; p.S418*; 8:89955427-89955427	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.128G>A; p.R43Q; 8:89982765-89982765	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1089C>T; p.Y363Y; 8:89958760-89958760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1089C>T; p.Y363Y; 8:89958760-89958760	prostate	carcinoma	Substitution - coding silent
c.1131G>C; p.L377F; 8:89955549-89955549	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.979G>T; p.G327C; 8:89964425-89964425	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.252G>T; p.Q84H; 8:89981443-89981443	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1398-1G>A; p.?; 8:89953692-89953692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1294T>C; p.S432P; 8:89955386-89955386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053T>G; p.F685V; 8:89946157-89946157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1013C>T; p.P338L; 8:89958836-89958836	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1066G>A; p.A356T; 8:89958783-89958783	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1390A>G; p.K464E; 8:89955290-89955290	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2006C>T; p.S669F; 8:89946204-89946204	skin	malignant_melanoma	Substitution - Missense
c.1855G>A; p.E619K; 8:89947883-89947883	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1980A>G; p.R660R; 8:89946230-89946230	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.266G>A; p.R89Q; 8:89981429-89981429	urinary_tract; bladder	carcinoma	Substitution - Missense
c.107A>C; p.E36A; 8:89982786-89982786	urinary_tract; bladder	carcinoma	Substitution - Missense
c.425A>G; p.N142S; 8:89980789-89980789	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2184+6T>C; p.?; 8:89943247-89943247	urinary_tract; bladder	carcinoma	Unknown
c.123C>T; p.I41I; 8:89982770-89982770	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1065C>T; p.S355S; 8:89958784-89958784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1060C>T; p.P354S; 8:89958789-89958789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1618C>T; p.H540Y; 8:89953471-89953471	breast	carcinoma	Substitution - Missense
c.1618C>T; p.H540Y; 8:89953471-89953471	skin	malignant_melanoma	Substitution - Missense
c.1786G>A; p.D596N; 8:89953303-89953303	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.690G>T; p.L230F; 8:89971185-89971185	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>C; p.E185Q; 8:89978251-89978251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>C; p.E185Q; 8:89978251-89978251	thyroid	other; neoplasm	Substitution - Missense
c.504A>G; p.G168G; 8:89978300-89978300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.504A>G; p.G168G; 8:89978300-89978300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.504A>G; p.G168G; 8:89978300-89978300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.504A>G; p.G168G; 8:89978300-89978300	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.654_658delAAAAC; p.K219fs*16; 8:89971217-89971221	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1052A>G; p.K351R; 8:89958797-89958797	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1906G>T; p.E636*; 8:89947832-89947832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2185G>C; p.V729L; 8:89937075-89937075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1087T>C; p.Y363H; 8:89958762-89958762	pancreas	carcinoma	Substitution - Missense
c.1087T>C; p.Y363H; 8:89958762-89958762	pancreas	carcinoma	Substitution - Missense
c.2219C>T; p.A740V; 8:89937041-89937041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1087T>C; p.Y363H; 8:89958762-89958762	pancreas	carcinoma	Substitution - Missense
c.2196A>G; p.Q732Q; 8:89937064-89937064	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.638C>T; p.S213L; 8:89971237-89971237	breast	carcinoma	Substitution - Missense
c.2016A>G; p.P672P; 8:89946194-89946194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.580G>A; p.E194K; 8:89978224-89978224	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2016A>G; p.P672P; 8:89946194-89946194	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2184G>A; p.E728E; 8:89943253-89943253	liver	carcinoma	Substitution - coding silent
c.2184G>A; p.E728E; 8:89943253-89943253	liver	carcinoma	Substitution - coding silent
c.244A>G; p.K82E; 8:89981451-89981451	prostate	adenoma	Substitution - Missense
c.392C>A; p.A131D; 8:89980822-89980822	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2052T>A; p.N684K; 8:89946158-89946158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.671G>C; p.G224A; 8:89971204-89971204	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.671G>C; p.G224A; 8:89971204-89971204	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.393T>C; p.A131A; 8:89980821-89980821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1160C>T; p.S387F; 8:89955520-89955520	skin	malignant_melanoma	Substitution - Missense
c.724G>C; p.V242L; 8:89970536-89970536	liver	carcinoma	Substitution - Missense
c.724G>C; p.V242L; 8:89970536-89970536	liver	carcinoma	Substitution - Missense
c.1958_1959insA; p.L654fs*5; 8:89946251-89946252	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.162A>T; p.V54V; 8:89982731-89982731	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1469delT; p.L490fs*1; 8:89953620-89953620	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1999T>C; p.S667P; 8:89946211-89946211	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1627G>A; p.E543K; 8:89953462-89953462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.553G>T; p.E185*; 8:89978251-89978251	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense

COSMIC somatic mutation [Top]