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Basic Information

Gene ID

4436

Name

MSH2

Synonymous

COCA1|FCC1|HNPCC|HNPCC1|LCFS2;mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli);MSH2;mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

Definition

DNA mismatch repair protein Msh2|hMSH2|mutS protein homolog 2

Position

2p21

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for MSH2

PCGP somatic mutation   [Top]

There is no record for MSH2

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.1133_1135delAAG; p.E378del; 2:47510441-47510443

endometriumcarcinoma; adenocarcinoma

c.606C>T; p.P202P; 2:47490976-47490976

large_intestinecarcinoma; adenocarcinoma

c.?; p.R406*;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1237C>T; p.Q413*; 2:47510545-47510545

large_intestine; coloncarcinoma; adenocarcinoma

c.2245G>T; p.E749*; 2:47558949-47558949

large_intestinecarcinoma; adenocarcinoma

c.2061C>G; p.L687L; 2:47557065-47557065

large_intestinecarcinoma; adenocarcinoma

c.965G>A; p.G322D; 2:47496961-47496961

large_intestinecarcinoma; adenocarcinoma

c.984C>T; p.A328A; 2:47496980-47496980

large_intestinecarcinoma; adenocarcinoma

c.709A>G; p.I237V; 2:47493120-47493120

large_intestinecarcinoma; adenocarcinoma

c.777A>G; p.P259P; 2:47493188-47493188

large_intestinecarcinoma; adenocarcinoma

c.1759G>C; p.G587R; 2:47551705-47551705

large_intestine; coloncarcinoma; adenocarcinoma

c.1807G>T; p.D603Y; 2:47555715-47555715

large_intestine; coloncarcinoma; adenocarcinoma

c.2479G>A; p.G827R; 2:47561359-47561359

large_intestine; coloncarcinoma; adenocarcinoma

c.1737_1738insA; p.E580fs*18; 2:47551683-47551684

large_intestinecarcinoma; adenocarcinoma

c.658G>T; p.G220*; 2:47493069-47493069

large_intestine; rightcarcinoma; adenocarcinoma

c.366+30delT; p.?; 2:47489228-47489228

large_intestinecarcinoma; adenocarcinoma

c.2466T>A; p.C822*; 2:47561346-47561346

large_intestinecarcinoma; adenocarcinoma

c.1487T>G; p.L496*; 2:47543774-47543774

large_intestinecarcinoma; adenocarcinoma

c.2240_2241delTA; p.I747fs*2; 2:47558944-47558945

large_intestinecarcinoma; adenocarcinoma

c.2020G>A; p.G674S; 2:47557024-47557024

large_intestinecarcinoma; adenocarcinoma

c.687delA; p.A230fs*16; 2:47493098-47493098

small_intestine; duodenumcarcinoma; adenocarcinoma

c.934delC; p.L312fs*19; 2:47495053-47495053

large_intestinecarcinoma; adenocarcinoma

c.1569delT; p.R524fs*2; 2:47547359-47547359

endometriumcarcinoma

c.1753delT; p.S585fs*5; 2:47551699-47551699

large_intestinecarcinoma; adenocarcinoma

c.1939G>T; p.E647*; 2:47555847-47555847

large_intestinecarcinoma; adenocarcinoma

c.2038C>T; p.R680*; 2:47557042-47557042

large_intestinecarcinoma; adenocarcinoma

c.2006-6T>C; p.?; 2:47557004-47557004

breastcarcinoma; lobular_carcinoma

c.1807G>A; p.D603N; 2:47555715-47555715

breastcarcinoma; ductal_carcinoma

c.1034G>A; p.W345*; 2:47497030-47497030

breastcarcinoma; ductal_carcinoma

c.942+3A>T; p.?; 2:47495064-47495064

large_intestinecarcinoma; adenocarcinoma

c.664_664delA; p.I222fs*2; 2:47493075-47493075

large_intestinecarcinoma; adenocarcinoma

c.1147C>T; p.R383*; 2:47510455-47510455

large_intestinecarcinoma; adenocarcinoma

c.2541_2541delA; p.A848fs*44; 2:47561421-47561421

large_intestinecarcinoma; adenocarcinoma

c.1165C>T; p.R389*; 2:47510473-47510473

large_intestinecarcinoma; adenocarcinoma

c.2038C>T; p.R680*; 2:47557042-47557042

large_intestinecarcinoma; adenocarcinoma

c.1069G>T; p.E357*; 2:47497065-47497065

large_intestinecarcinoma; adenocarcinoma

c.645+1G>A; p.?; 2:47491016-47491016

large_intestinecarcinoma; adenocarcinoma

c.1820_1824delGCTTT; p.F608fs*34; 2:47555728-47555732

large_intestinecarcinoma; adenocarcinoma

c.942+3A>T; p.?; 2:47495064-47495064

large_intestinecarcinoma; adenocarcinoma

c.?; p.Q130fs*2;

urinary_tract; bladdercarcinoma; transitional_cell_carcinoma

c.2410G>A; p.A804T;

NSmalignant_melanoma

c.1316C>T; p.P439L; 2:47526230-47526230

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphoma

c.505A>G; p.I169V; 2:47490875-47490875

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphoma

c.1009C>T; p.Q337*;

large_intestine; coloncarcinoma; adenocarcinoma

c.1588G>T; p.E530*;

large_intestine; coloncarcinoma; adenocarcinoma

c.1738G>T; p.E580*;

large_intestine; coloncarcinoma; adenocarcinoma

c.965G>A; p.G322D; 2:47496961-47496961

lungcarcinoma; adenocarcinoma

c.2251G>A; p.G751R;

pancreascarcinoma; acinar_carcinoma

c.1216C>T; p.R406*; 2:47510524-47510524

large_intestinecarcinoma; adenocarcinoma

c.2463C>A; p.V821V; 2:47561343-47561343

large_intestinecarcinoma; adenocarcinoma

c.2082delT; p.F694fs*16; 2:47557086-47557086

large_intestinecarcinoma; adenocarcinoma

c.2465G>T; p.C822F; 2:47561345-47561345

skinmalignant_melanoma

c.1618A>G; p.S540G; 2:47547408-47547408

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphoma

c.2497C>G; p.L833V; 2:47561377-47561377

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphoma

c.2206C>A; p.L736I;

prostatecarcinoma; adenocarcinoma

c.1733T>G; p.V578G;

oesophaguscarcinoma; adenocarcinoma

c.2006-6T>C; p.?; 2:47557004-47557004

stomachcarcinoma; adenocarcinoma

c.1054G>C; p.D352H;

lungcarcinoma; adenocarcinoma

c.2027C>T; p.S676L;

livercarcinoma

c.1399G>A; p.E467K; 2:47543686-47543686

breastcarcinoma; ductal_carcinoma

c.2221A>T; p.K741*;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.662G>T; p.G221V;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.509A>T; p.Q170L;

lungcarcinoma; adenocarcinoma

c.1661+1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.2573G>T; p.G858V;

lungcarcinoma; adenocarcinoma

c.2038C>T; p.R680*; 2:47557042-47557042

lungcarcinoma; adenocarcinoma

c.2038C>T; p.R680*; 2:47557042-47557042

skin; trunkmalignant_melanoma

c.801T>A; p.V267V;

autonomic_ganglianeuroblastoma

c.1054G>C; p.D352H;

lungcarcinoma; non_small_cell_carcinoma

c.970C>T; p.Q324*;

ovarycarcinoma; serous_carcinoma

c.2470C>G; p.Q824E;

NSNS

c.2403T>C; p.H801H;

prostatecarcinoma

c.2168C>T; p.S723F;

skin; upper_legmalignant_melanoma

c.2359_2360delCT; p.L787fs*11; 2:47559063-47559064

endometriumcarcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour

c.2359_2360delCT; p.L787fs*11; 2:47559063-47559064

endometriumcarcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour

c.1476G>A; p.M492I;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm

c.1277-1G>A; p.?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1529_1530delAG; p.Q510fs*2;

autonomic_ganglianeuroblastoma

c.205C>A; p.P69T; 2:47484039-47484039

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.2075G>A; p.G692E; 2:47557079-47557079

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.1509T>C; p.L503L;

lungcarcinoma; adenocarcinoma

c.1760G>A; p.G587D;

lungcarcinoma; adenocarcinoma

c.1227G>A; p.Q409Q; 2:47510535-47510535

ovarycarcinoma; serous_carcinoma

c.2250delG; p.G751fs*12;

ovarycarcinoma; serous_carcinoma

c.2750C>T; p.A917V;

ovarycarcinoma; serous_carcinoma

c.409G>T; p.G137C;

lungcarcinoma; squamous_cell_carcinoma

c.1089G>T; p.V363V;

lungcarcinoma; adenocarcinoma

c.144G>A; p.E48E;

lungcarcinoma; adenocarcinoma

c.1066A>G; p.I356V;

lungcarcinoma; adenocarcinoma

c.2673G>C; p.V891V;

lungcarcinoma; adenocarcinoma

c.1479G>T; p.Q493H;

lungcarcinoma; adenocarcinoma

c.2119T>C; p.C707R;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1590A>G; p.E530E;

endometriumcarcinoma; endometrioid_carcinoma

c.1351C>G; p.Q451E;

breastcarcinoma

c.502T>C; p.S168P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2391_2393delTAA; p.N799delN;

large_intestine; coloncarcinoma; adenocarcinoma

c.1759G>T; p.G587C;

large_intestine; coloncarcinoma; adenocarcinoma

c.1759+2T>C; p.?;

large_intestine; coloncarcinoma; adenocarcinoma

c.205C>A; p.P69T; 2:47484039-47484039

large_intestine; coloncarcinoma; adenocarcinoma

c.984C>A; p.A328A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.606C>A; p.P202P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1400A>G; p.E467G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1905A>G; p.K635K;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1041G>A; p.K347K;

large_intestine; coloncarcinoma; adenocarcinoma

c.2462T>C; p.V821A;

large_intestine; coloncarcinoma; adenocarcinoma

c.1217G>A; p.R406Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.249G>T; p.M83I;

large_intestine; coloncarcinoma; adenocarcinoma

c.1738G>T; p.E580*;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1649A>C; p.K550T;

large_intestine; coloncarcinoma; adenocarcinoma

c.2466T>C; p.C822C;

large_intestine; coloncarcinoma; adenocarcinoma

c.681delA; p.A230fs*16;

large_intestine; coloncarcinoma; adenocarcinoma

c.2215G>A; p.A739T;

large_intestine; coloncarcinoma; adenocarcinoma

c.1092A>G; p.E364E;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2464T>C; p.C822R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1400A>G; p.E467G;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1234A>C; p.N412H;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1217G>A; p.R406Q;

large_intestine; rectumcarcinoma; adenocarcinoma

c.649A>C; p.I217L;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1135G>T; p.D379Y;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2786G>A; p.R929Q;

endometriumcarcinoma; endometrioid_carcinoma

c.1276_1276+9delGgtaacaagt; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.219G>T; p.K73N;

endometriumcarcinoma; endometrioid_carcinoma

c.1976A>C; p.K659T;

breastcarcinoma

c.2384C>A; p.P795Q;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1217G>A; p.R406Q;

large_intestinecarcinoma; adenocarcinoma

c.2465G>T; p.C822F; 2:47561345-47561345

large_intestine; caecumcarcinoma; adenocarcinoma

c.1492A>C; p.S498R;

endometriumcarcinoma; endometrioid_carcinoma

c.1681G>T; p.E561*;

endometriumcarcinoma; endometrioid_carcinoma

c.606C>A; p.P202P;

large_intestine; coloncarcinoma; adenocarcinoma

c.606C>A; p.P202P;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2480G>A; p.G827E;

large_intestine; caecumcarcinoma; adenocarcinoma

c.605C>A; p.P202H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2061C>T; p.L687L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2396A>G; p.N799S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1759G>T; p.G587C;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2479G>T; p.G827W;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2246A>G; p.E749G;

large_intestine; coloncarcinoma; adenocarcinoma

c.2579C>T; p.S860L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1052T>C; p.M351T;

large_intestine; coloncarcinoma; adenocarcinoma

c.1542T>C; p.D514D;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1738G>T; p.E580*;

endometriumcarcinoma; endometrioid_carcinoma

c.251A>T; p.N84I;

endometriumcarcinoma; endometrioid_carcinoma

c.258A>T; p.E86D;

endometriumcarcinoma; endometrioid_carcinoma

c.1601delG; p.R534fs*9;

endometriumcarcinoma; endometrioid_carcinoma

c.1228G>A; p.G410S;

breastcarcinoma

c.2172G>A; p.T724T;

endometriumcarcinoma; endometrioid_carcinoma

c.1447G>T; p.E483*;

endometriumcarcinoma; endometrioid_carcinoma

c.1696A>C; p.N566H;

endometriumcarcinoma; endometrioid_carcinoma

c.2613G>T; p.K871N;

endometriumcarcinoma; endometrioid_carcinoma

c.1627G>A; p.D543N;

urinary_tract; bladdercarcinoma

c.660A>G; p.G220G;

large_intestine; coloncarcinoma; adenocarcinoma

c.574A>G; p.I192V;

large_intestine; coloncarcinoma; adenocarcinoma

c.1488A>G; p.L496L;

large_intestine; coloncarcinoma; adenocarcinoma

c.660A>G; p.G220G;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2601A>G; p.E867E;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2060T>C; p.L687P;

large_intestine; coloncarcinoma; adenocarcinoma

c.606C>A; p.P202P;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2133A>G; p.R711R;

large_intestine; coloncarcinoma; adenocarcinoma

c.2580G>A; p.S860S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1550_1551delCA; p.Q518fs*10;

large_intestine; coloncarcinoma; adenocarcinoma

c.777A>G; p.P259P; 2:47493188-47493188

large_intestine; coloncarcinoma; adenocarcinoma

c.1238A>G; p.Q413R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2061C>T; p.L687L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2131C>A; p.R711R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.660A>G; p.G220G;

large_intestine; coloncarcinoma; adenocarcinoma

c.2436_2437insA; p.M813fs*11;

large_intestine; coloncarcinoma; adenocarcinoma

c.2462T>C; p.V821A;

large_intestine; coloncarcinoma; adenocarcinoma

c.2664G>A; p.L888L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1237C>A; p.Q413K;

large_intestine; coloncarcinoma; adenocarcinoma

c.2060T>C; p.L687P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2131C>T; p.R711*; 2:47557135-47557135

large_intestine; coloncarcinoma; adenocarcinoma

c.228G>T; p.Q76H;

endometriumcarcinoma; endometrioid_carcinoma

c.1216C>A; p.R406R;

large_intestine; coloncarcinoma; adenocarcinoma

c.207G>A; p.P69P;

large_intestine; coloncarcinoma; adenocarcinoma

c.606C>A; p.P202P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2466T>C; p.C822C;

large_intestine; coloncarcinoma; adenocarcinoma

c.2131C>T; p.R711*; 2:47557135-47557135

large_intestine; coloncarcinoma; adenocarcinoma

c.1530G>C; p.Q510H;

breastcarcinoma

c.1217G>T; p.R406L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2446C>T; p.Q816*;

cervixcarcinoma; squamous_cell_carcinoma

c.1216C>A; p.R406R;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2461G>T; p.V821F;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2479G>T; p.G827W;

large_intestine; coloncarcinoma; adenocarcinoma

c.777A>G; p.P259P; 2:47493188-47493188

large_intestine; coloncarcinoma; adenocarcinoma

c.1216C>A; p.R406R;

large_intestine; coloncarcinoma; adenocarcinoma

c.1401A>G; p.E467E;

large_intestine; coloncarcinoma; adenocarcinoma

c.1217G>T; p.R406L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1400A>G; p.E467G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1216C>A; p.R406R;

large_intestine; coloncarcinoma; adenocarcinoma

c.1190A>G; p.Q397R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1432C>T; p.L478F;

skin; scalpcarcinoma; squamous_cell_carcinoma

c.241A>C; p.S81R;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.219G>C; p.K73N;

stomachadenocarcinoma


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