Entrez Gene

Basic Information
Gene ID	7159
Name	TP53BP2

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.2822C>T; p.A941V; 1:223784269-223784269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2822C>T; p.A941V; 1:223784269-223784269	pancreas	carcinoma	Substitution - Missense
c.2822C>T; p.A941V; 1:223784269-223784269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.763A>G; p.I255V; 1:223802191-223802191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1373_1375delCCG; p.A458delA; 1:223798401-223798403	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2905G>A; p.E969K; 1:223784186-223784186	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.783G>A; p.P261P; 1:223802171-223802171	skin	malignant_melanoma	Substitution - coding silent
c.1015G>A; p.A339T; 1:223799982-223799982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1937C>G; p.S646*; 1:223796215-223796215	breast	carcinoma	Substitution - Nonsense
c.1545G>T; p.G515G; 1:223798231-223798231	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1044C>T; p.S348S; 1:223799953-223799953	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.1044C>T; p.S348S; 1:223799953-223799953	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.1044C>T; p.S348S; 1:223799953-223799953	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2702G>T; p.S901I; 1:223789082-223789082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2640C>T; p.N880N; 1:223789144-223789144	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2481T>C; p.D827D; 1:223792517-223792517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2380G>A; p.A794T; 1:223793398-223793398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.351G>A; p.R117R; 1:223803364-223803364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2380G>A; p.A794T; 1:223793398-223793398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2481T>C; p.D827D; 1:223792517-223792517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2020G>A; p.E674K; 1:223796132-223796132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1284G>A; p.P428P; 1:223798492-223798492	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.631C>T; p.P211S; 1:223802323-223802323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.692C>T; p.S231F; 1:223802262-223802262	skin; trunk	malignant_melanoma	Substitution - Missense
c.1715G>A; p.R572Q; 1:223796437-223796437	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2357G>A; p.R786H; 1:223793421-223793421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1899G>A; p.R633R; 1:223796253-223796253	skin	malignant_melanoma	Substitution - coding silent
c.1899G>A; p.R633R; 1:223796253-223796253	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1193C>T; p.P398L; 1:223798583-223798583	prostate	carcinoma	Substitution - Missense
c.2188C>G; p.P730A; 1:223795964-223795964	kidney	other; neoplasm	Substitution - Missense
c.1378C>T; p.R460W; 1:223798398-223798398	oesophagus	carcinoma	Substitution - Missense
c.2768T>G; p.F923C; 1:223789016-223789016	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1812C>T; p.N604N; 1:223796340-223796340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.807C>T; p.N269N; 1:223802147-223802147	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2823G>A; p.A941A; 1:223784268-223784268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2976+1G>A; p.?; 1:223784114-223784114	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2939A>T; p.N980I; 1:223784152-223784152	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2939A>T; p.N980I; 1:223784152-223784152	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2939A>T; p.N980I; 1:223784152-223784152	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2802G>A; p.M934I; 1:223784289-223784289	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.994C>T; p.R332C; 1:223800003-223800003	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>T; p.R332C; 1:223800003-223800003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.544G>A; p.V182I; 1:223802796-223802796	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2479G>C; p.D827H; 1:223792519-223792519	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.16G>T; p.A6S; 1:223806917-223806917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1133C>A; p.P378H; 1:223798643-223798643	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.649G>A; p.A217T; 1:223802305-223802305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.521A>G; p.E174G; 1:223802819-223802819	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.360G>C; p.E120D; 1:223803355-223803355	breast	carcinoma	Substitution - Missense
c.2892C>G; p.I964M; 1:223784199-223784199	breast	carcinoma	Substitution - Missense
c.2254C>T; p.P752S; 1:223795898-223795898	skin	malignant_melanoma	Substitution - Missense
c.1286G>A; p.R429K; 1:223798490-223798490	skin	malignant_melanoma	Substitution - Missense
c.2822C>G; p.A941G; 1:223784269-223784269	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.839-2A>T; p.?; 1:223800812-223800812	skin	malignant_melanoma	Unknown
c.1392C>T; p.P464P; 1:223798384-223798384	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.425G>A; p.R142H; 1:223803290-223803290	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1069A>G; p.S357G; 1:223799928-223799928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.298C>A; p.Q100K; 1:223803417-223803417	skin	malignant_melanoma	Substitution - Missense
c.842C>A; p.S281Y; 1:223800807-223800807	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.298C>A; p.Q100K; 1:223803417-223803417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1400C>T; p.S467F; 1:223798376-223798376	pancreas	carcinoma	Substitution - Missense
c.2569C>T; p.Q857*; 1:223792429-223792429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2931G>A; p.A977A; 1:223784160-223784160	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1321C>A; p.Q441K; 1:223798455-223798455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1508C>T; p.A503V; 1:223798268-223798268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2223G>T; p.E741D; 1:223795929-223795929	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2829G>A; p.W943*; 1:223784262-223784262	skin	malignant_melanoma	Substitution - Nonsense
c.1727C>G; p.P576R; 1:223796425-223796425	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.36A>G; p.A12A; 1:223806897-223806897	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1671T>C; p.P557P; 1:223796481-223796481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1004C>T; p.S335L; 1:223799993-223799993	breast	carcinoma	Substitution - Missense
c.766C>G; p.Q256E; 1:223802188-223802188	breast	carcinoma	Substitution - Missense
c.2606G>A; p.G869E; 1:223792392-223792392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.315C>T; p.L105L; 1:223803400-223803400	skin	malignant_melanoma	Substitution - coding silent
c.657C>T; p.S219S; 1:223802297-223802297	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2033T>C; p.V678A; 1:223796119-223796119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.381C>T; p.I127I; 1:223803334-223803334	skin	malignant_melanoma	Substitution - coding silent
c.2123A>C; p.D708A; 1:223796029-223796029	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1937C>A; p.S646*; 1:223796215-223796215	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.323C>A; p.A108D; 1:223803392-223803392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2634A>G; p.S878S; 1:223789150-223789150	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2889C>T; p.I963I; 1:223784202-223784202	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2879G>T; p.C960F; 1:223784212-223784212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2999G>T; p.R1000I; 1:223780872-223780872	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2917G>A; p.E973K; 1:223784174-223784174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.253G>A; p.G85R; 1:223804183-223804183	skin	malignant_melanoma	Substitution - Missense
c.1391C>A; p.P464H; 1:223798385-223798385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1892A>G; p.Y631C; 1:223796260-223796260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1519G>A; p.A507T; 1:223798257-223798257	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2258C>T; p.S753F; 1:223795894-223795894	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2384A>G; p.H795R; 1:223793394-223793394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2246delC; p.P749fs*16; 1:223795906-223795906	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2246delC; p.P749fs*16; 1:223795906-223795906	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2632T>G; p.S878A; 1:223789152-223789152	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1928C>G; p.S643C; 1:223796224-223796224	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2228A>G; p.Y743C; 1:223795924-223795924	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1092T>G; p.D364E; 1:223799905-223799905	skin	malignant_melanoma	Substitution - Missense
c.1712C>T; p.P571L; 1:223796440-223796440	skin	malignant_melanoma	Substitution - Missense
c.2299C>T; p.R767C; 1:223795853-223795853	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1989A>T; p.E663D; 1:223796163-223796163	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2289G>A; p.S763S; 1:223795863-223795863	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.749A>G; p.D250G; 1:223802205-223802205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1485G>C; p.A495A; 1:223798291-223798291	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2001A>T; p.P667P; 1:223796151-223796151	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1500C>A; p.F500L; 1:223798276-223798276	liver	carcinoma	Substitution - Missense
c.1017A>G; p.A339A; 1:223799980-223799980	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.38C>A; p.S13Y; 1:223806895-223806895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2620C>T; p.H874Y; 1:223789164-223789164	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1625C>T; p.S542F; 1:223796527-223796527	skin	malignant_melanoma	Substitution - Missense
c.321G>T; p.L107L; 1:223803394-223803394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1625C>T; p.S542F; 1:223796527-223796527	skin	malignant_melanoma	Substitution - Missense
c.1669C>T; p.P557S; 1:223796483-223796483	skin	malignant_melanoma	Substitution - Missense
c.2778A>G; p.G926G; 1:223784313-223784313	kidney	other; neoplasm	Substitution - coding silent
c.3015C>T; p.A1005A; 1:223780856-223780856	ovary	other; neoplasm	Substitution - coding silent
c.995G>A; p.R332H; 1:223800002-223800002	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1041T>G; p.P347P; 1:223799956-223799956	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1232C>T; p.S411L; 1:223798544-223798544	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.595A>G; p.K199E; 1:223802745-223802745	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1314G>A; p.S438S; 1:223798462-223798462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1314G>A; p.S438S; 1:223798462-223798462	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1314G>A; p.S438S; 1:223798462-223798462	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1314G>A; p.S438S; 1:223798462-223798462	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2410delC; p.A805fs*4; 1:223793368-223793368	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2176G>A; p.E726K; 1:223795976-223795976	urinary_tract; bladder	carcinoma	Substitution - Missense
c.584C>T; p.A195V; 1:223802756-223802756	skin	malignant_melanoma	Substitution - Missense
c.2228A>C; p.Y743S; 1:223795924-223795924	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2489G>T; p.S830I; 1:223792509-223792509	pancreas	carcinoma	Substitution - Missense
c.1124T>C; p.V375A; 1:223798652-223798652	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1782C>T; p.D594D; 1:223796370-223796370	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1313C>T; p.S438L; 1:223798463-223798463	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1851G>A; p.E617E; 1:223796301-223796301	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.25C>T; p.Q9*; 1:223806908-223806908	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.701C>T; p.P234L; 1:223802253-223802253	pancreas	carcinoma	Substitution - Missense
c.576G>A; p.K192K; 1:223802764-223802764	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2338-5T>C; p.?; 1:223793445-223793445	liver	carcinoma	Unknown
c.1391C>T; p.P464L; 1:223798385-223798385	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2796C>A; p.G932G; 1:223784295-223784295	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2254_2255CC>TT; p.P752L; 1:223795897-223795898	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.207delA; p.V70fs*1; 1:223804229-223804229	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.207delA; p.V70fs*1; 1:223804229-223804229	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2014G>A; p.E672K; 1:223796138-223796138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.686A>T; p.Q229L; 1:223802268-223802268	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.609+10C>T; p.?; 1:223802721-223802721	oesophagus	carcinoma; adenocarcinoma	Unknown
c.555G>C; p.L185L; 1:223802785-223802785	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1755T>C; p.N585N; 1:223796397-223796397	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.214G>T; p.A72S; 1:223804222-223804222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.957T>C; p.D319D; 1:223800040-223800040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2462G>T; p.R821I; 1:223793316-223793316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.340G>T; p.E114*; 1:223803375-223803375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1917G>A; p.M639I; 1:223796235-223796235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1568G>C; p.G523A; 1:223796584-223796584	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1789G>A; p.A597T; 1:223796363-223796363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.839G>A; p.G280D; 1:223800810-223800810	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.421G>A; p.D141N; 1:223803294-223803294	breast	carcinoma	Substitution - Missense
c.2231C>T; p.P744L; 1:223795921-223795921	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1270G>A; p.A424T; 1:223798506-223798506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2450A>G; p.D817G; 1:223793328-223793328	pancreas	carcinoma	Substitution - Missense
c.1830G>T; p.K610N; 1:223796322-223796322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1841C>G; p.S614C; 1:223796311-223796311	NS	NS	Substitution - Missense
c.2872G>T; p.G958*; 1:223784219-223784219	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.196A>G; p.K66E; 1:223804240-223804240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.196A>G; p.K66E; 1:223804240-223804240	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.854C>T; p.P285L; 1:223800795-223800795	skin	malignant_melanoma	Substitution - Missense
c.1472C>T; p.T491M; 1:223798304-223798304	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1567G>A; p.G523S; 1:223796585-223796585	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1380G>T; p.R460R; 1:223798396-223798396	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.896C>T; p.P299L; 1:223800753-223800753	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

The somatic mutations from COSMIC database