| General information | Literature | Expression | Regulation | Variant | Interaction |
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 |
endometrium | carcinoma; adenocarcinoma |
c.606C>T; p.P202P; 2:47490976-47490976 |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.R406*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1237C>T; p.Q413*; 2:47510545-47510545 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2245G>T; p.E749*; 2:47558949-47558949 |
large_intestine | carcinoma; adenocarcinoma |
c.2061C>G; p.L687L; 2:47557065-47557065 |
large_intestine | carcinoma; adenocarcinoma |
c.965G>A; p.G322D; 2:47496961-47496961 |
large_intestine | carcinoma; adenocarcinoma |
c.984C>T; p.A328A; 2:47496980-47496980 |
large_intestine | carcinoma; adenocarcinoma |
c.709A>G; p.I237V; 2:47493120-47493120 |
large_intestine | carcinoma; adenocarcinoma |
c.777A>G; p.P259P; 2:47493188-47493188 |
large_intestine | carcinoma; adenocarcinoma |
c.1759G>C; p.G587R; 2:47551705-47551705 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1807G>T; p.D603Y; 2:47555715-47555715 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2479G>A; p.G827R; 2:47561359-47561359 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1737_1738insA; p.E580fs*18; 2:47551683-47551684 |
large_intestine | carcinoma; adenocarcinoma |
c.658G>T; p.G220*; 2:47493069-47493069 |
large_intestine; right | carcinoma; adenocarcinoma |
c.366+30delT; p.?; 2:47489228-47489228 |
large_intestine | carcinoma; adenocarcinoma |
c.2466T>A; p.C822*; 2:47561346-47561346 |
large_intestine | carcinoma; adenocarcinoma |
c.1487T>G; p.L496*; 2:47543774-47543774 |
large_intestine | carcinoma; adenocarcinoma |
c.2240_2241delTA; p.I747fs*2; 2:47558944-47558945 |
large_intestine | carcinoma; adenocarcinoma |
c.2020G>A; p.G674S; 2:47557024-47557024 |
large_intestine | carcinoma; adenocarcinoma |
c.687delA; p.A230fs*16; 2:47493098-47493098 |
small_intestine; duodenum | carcinoma; adenocarcinoma |
c.934delC; p.L312fs*19; 2:47495053-47495053 |
large_intestine | carcinoma; adenocarcinoma |
c.1569delT; p.R524fs*2; 2:47547359-47547359 |
endometrium | carcinoma |
c.1753delT; p.S585fs*5; 2:47551699-47551699 |
large_intestine | carcinoma; adenocarcinoma |
c.1939G>T; p.E647*; 2:47555847-47555847 |
large_intestine | carcinoma; adenocarcinoma |
c.2038C>T; p.R680*; 2:47557042-47557042 |
large_intestine | carcinoma; adenocarcinoma |
c.2006-6T>C; p.?; 2:47557004-47557004 |
breast | carcinoma; lobular_carcinoma |
c.1807G>A; p.D603N; 2:47555715-47555715 |
breast | carcinoma; ductal_carcinoma |
c.1034G>A; p.W345*; 2:47497030-47497030 |
breast | carcinoma; ductal_carcinoma |
c.942+3A>T; p.?; 2:47495064-47495064 |
large_intestine | carcinoma; adenocarcinoma |
c.664_664delA; p.I222fs*2; 2:47493075-47493075 |
large_intestine | carcinoma; adenocarcinoma |
c.1147C>T; p.R383*; 2:47510455-47510455 |
large_intestine | carcinoma; adenocarcinoma |
c.2541_2541delA; p.A848fs*44; 2:47561421-47561421 |
large_intestine | carcinoma; adenocarcinoma |
c.1165C>T; p.R389*; 2:47510473-47510473 |
large_intestine | carcinoma; adenocarcinoma |
c.2038C>T; p.R680*; 2:47557042-47557042 |
large_intestine | carcinoma; adenocarcinoma |
c.1069G>T; p.E357*; 2:47497065-47497065 |
large_intestine | carcinoma; adenocarcinoma |
c.645+1G>A; p.?; 2:47491016-47491016 |
large_intestine | carcinoma; adenocarcinoma |
c.1820_1824delGCTTT; p.F608fs*34; 2:47555728-47555732 |
large_intestine | carcinoma; adenocarcinoma |
c.942+3A>T; p.?; 2:47495064-47495064 |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.Q130fs*2; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.2410G>A; p.A804T; |
NS | malignant_melanoma |
c.1316C>T; p.P439L; 2:47526230-47526230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.505A>G; p.I169V; 2:47490875-47490875 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1009C>T; p.Q337*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1588G>T; p.E530*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1738G>T; p.E580*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.965G>A; p.G322D; 2:47496961-47496961 |
lung | carcinoma; adenocarcinoma |
c.2251G>A; p.G751R; |
pancreas | carcinoma; acinar_carcinoma |
c.1216C>T; p.R406*; 2:47510524-47510524 |
large_intestine | carcinoma; adenocarcinoma |
c.2463C>A; p.V821V; 2:47561343-47561343 |
large_intestine | carcinoma; adenocarcinoma |
c.2082delT; p.F694fs*16; 2:47557086-47557086 |
large_intestine | carcinoma; adenocarcinoma |
c.2465G>T; p.C822F; 2:47561345-47561345 |
skin | malignant_melanoma |
c.1618A>G; p.S540G; 2:47547408-47547408 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2497C>G; p.L833V; 2:47561377-47561377 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2206C>A; p.L736I; |
prostate | carcinoma; adenocarcinoma |
c.1733T>G; p.V578G; |
oesophagus | carcinoma; adenocarcinoma |
c.2006-6T>C; p.?; 2:47557004-47557004 |
stomach | carcinoma; adenocarcinoma |
c.1054G>C; p.D352H; |
lung | carcinoma; adenocarcinoma |
c.2027C>T; p.S676L; |
liver | carcinoma |
c.1399G>A; p.E467K; 2:47543686-47543686 |
breast | carcinoma; ductal_carcinoma |
c.2221A>T; p.K741*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.662G>T; p.G221V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.509A>T; p.Q170L; |
lung | carcinoma; adenocarcinoma |
c.1661+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2573G>T; p.G858V; |
lung | carcinoma; adenocarcinoma |
c.2038C>T; p.R680*; 2:47557042-47557042 |
lung | carcinoma; adenocarcinoma |
c.2038C>T; p.R680*; 2:47557042-47557042 |
skin; trunk | malignant_melanoma |
c.801T>A; p.V267V; |
autonomic_ganglia | neuroblastoma |
c.1054G>C; p.D352H; |
lung | carcinoma; non_small_cell_carcinoma |
c.970C>T; p.Q324*; |
ovary | carcinoma; serous_carcinoma |
c.2470C>G; p.Q824E; |
NS | NS |
c.2403T>C; p.H801H; |
prostate | carcinoma |
c.2168C>T; p.S723F; |
skin; upper_leg | malignant_melanoma |
c.2359_2360delCT; p.L787fs*11; 2:47559063-47559064 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour |
c.2359_2360delCT; p.L787fs*11; 2:47559063-47559064 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour |
c.1476G>A; p.M492I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm |
c.1277-1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1529_1530delAG; p.Q510fs*2; |
autonomic_ganglia | neuroblastoma |
c.205C>A; p.P69T; 2:47484039-47484039 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2075G>A; p.G692E; 2:47557079-47557079 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1509T>C; p.L503L; |
lung | carcinoma; adenocarcinoma |
c.1760G>A; p.G587D; |
lung | carcinoma; adenocarcinoma |
c.1227G>A; p.Q409Q; 2:47510535-47510535 |
ovary | carcinoma; serous_carcinoma |
c.2250delG; p.G751fs*12; |
ovary | carcinoma; serous_carcinoma |
c.2750C>T; p.A917V; |
ovary | carcinoma; serous_carcinoma |
c.409G>T; p.G137C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1089G>T; p.V363V; |
lung | carcinoma; adenocarcinoma |
c.144G>A; p.E48E; |
lung | carcinoma; adenocarcinoma |
c.1066A>G; p.I356V; |
lung | carcinoma; adenocarcinoma |
c.2673G>C; p.V891V; |
lung | carcinoma; adenocarcinoma |
c.1479G>T; p.Q493H; |
lung | carcinoma; adenocarcinoma |
c.2119T>C; p.C707R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1590A>G; p.E530E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1351C>G; p.Q451E; |
breast | carcinoma |
c.502T>C; p.S168P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2391_2393delTAA; p.N799delN; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1759G>T; p.G587C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1759+2T>C; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.205C>A; p.P69T; 2:47484039-47484039 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.984C>A; p.A328A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.606C>A; p.P202P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1400A>G; p.E467G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1905A>G; p.K635K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1041G>A; p.K347K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2462T>C; p.V821A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1217G>A; p.R406Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.249G>T; p.M83I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1738G>T; p.E580*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1649A>C; p.K550T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2466T>C; p.C822C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.681delA; p.A230fs*16; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2215G>A; p.A739T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1092A>G; p.E364E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2464T>C; p.C822R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1400A>G; p.E467G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1234A>C; p.N412H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1217G>A; p.R406Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.649A>C; p.I217L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1135G>T; p.D379Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2786G>A; p.R929Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1276_1276+9delGgtaacaagt; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.219G>T; p.K73N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1976A>C; p.K659T; |
breast | carcinoma |
c.2384C>A; p.P795Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1217G>A; p.R406Q; |
large_intestine | carcinoma; adenocarcinoma |
c.2465G>T; p.C822F; 2:47561345-47561345 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1492A>C; p.S498R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1681G>T; p.E561*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.606C>A; p.P202P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.606C>A; p.P202P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2480G>A; p.G827E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.605C>A; p.P202H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2061C>T; p.L687L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2396A>G; p.N799S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1759G>T; p.G587C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2479G>T; p.G827W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2246A>G; p.E749G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2579C>T; p.S860L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1052T>C; p.M351T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1542T>C; p.D514D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1738G>T; p.E580*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.251A>T; p.N84I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.258A>T; p.E86D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1601delG; p.R534fs*9; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1228G>A; p.G410S; |
breast | carcinoma |
c.2172G>A; p.T724T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1447G>T; p.E483*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1696A>C; p.N566H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2613G>T; p.K871N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1627G>A; p.D543N; |
urinary_tract; bladder | carcinoma |
c.660A>G; p.G220G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.574A>G; p.I192V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1488A>G; p.L496L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.660A>G; p.G220G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2601A>G; p.E867E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2060T>C; p.L687P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.606C>A; p.P202P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2133A>G; p.R711R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2580G>A; p.S860S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1550_1551delCA; p.Q518fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.777A>G; p.P259P; 2:47493188-47493188 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1238A>G; p.Q413R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2061C>T; p.L687L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2131C>A; p.R711R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.660A>G; p.G220G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2436_2437insA; p.M813fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2462T>C; p.V821A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2664G>A; p.L888L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1237C>A; p.Q413K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2060T>C; p.L687P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2131C>T; p.R711*; 2:47557135-47557135 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.228G>T; p.Q76H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1216C>A; p.R406R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.207G>A; p.P69P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.606C>A; p.P202P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2466T>C; p.C822C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2131C>T; p.R711*; 2:47557135-47557135 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1530G>C; p.Q510H; |
breast | carcinoma |
c.1217G>T; p.R406L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2446C>T; p.Q816*; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1216C>A; p.R406R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2461G>T; p.V821F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2479G>T; p.G827W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.777A>G; p.P259P; 2:47493188-47493188 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1216C>A; p.R406R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1401A>G; p.E467E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1217G>T; p.R406L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1400A>G; p.E467G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1216C>A; p.R406R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1190A>G; p.Q397R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1432C>T; p.L478F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.241A>C; p.S81R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.219G>C; p.K73N; |
stomach | adenocarcinoma |