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| General information | Expression | Regulation | Mutation | 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: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.984C>T; 2:47496980-47496980 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.606C>T; 2:47490976-47490976 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.2463C>A; 2:47561343-47561343 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.2061C>G; 2:47557065-47557065 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.777A>G; 2:47493188-47493188 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.1227G>A; 2:47510535-47510535 |
y; ovary | serous_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.2304delA; 2:47559008-47559008 |
cervix | carcinoma |
Deletion - Frameshift; c.2240_2241delTA; 2:47558944-47558945 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.2359_2360delCT; 2:47559063-47559064 |
endometrium | carcinosarcoma-malignant_mesodermal_mixed_tumour; carcinoma |
Deletion - In frame; c.1133_1135delAAG; 2:47510441-47510443 |
endometrium | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1569delT; 2:47547359-47547359 |
endometrium | carcinoma |
Deletion - Frameshift; c.387_388delTC; 2:47490757-47490758 |
ovary | mucinous_carcinoma; carcinoma |
Deletion - Frameshift; c.2250delG; |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.2082delT; 2:47557086-47557086 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.?; |
large_intestine; colon; right | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.687delA; 2:47493098-47493098 |
small_intestine; duodenum | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.934delC; 2:47495053-47495053 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1753delT; 2:47551699-47551699 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.2359_2360delCT; 2:47559063-47559064 |
endometrium | carcinosarcoma-malignant_mesodermal_mixed_tumour; carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Whole gene deletion; c.1_2805del2805; 2:47224899-48358267 |
haematopoietic_and_lymphoid_ti | plasma_cell_myeloma; lymphoid_neoplasm |