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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 675 |
Name | BRCA2 |
Synonymous | BRCC2|BROVCA2|FACD|FAD|FAD1|FANCB|FANCD|FANCD1|GLM3|PNCA2;breast cancer 2, early onset;BRCA2;breast cancer 2, early onset |
Definition | BRCA1/BRCA2-containing complex, subunit 2|breast and ovarian cancer susceptibility gene, early onset|breast cancer 2 tumor suppressor|breast cancer susceptibility protein BRCA2|breast cancer type 2 susceptibility protein|fanconi anemia group D1 protein |
Position | 13q12.3 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1452A>G; |
pancreas | NS |
Substitution - coding silent; c.4014C>T; 13:31810506-31810506 |
oesophagus | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.5046T>C; 13:31811538-31811538 |
oesophagus | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.8832C>A; |
n; lung | undifferentiated_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.3599_3600delGT; 13:31810091-31810092 |
large_intestine; colon | carcinoma |
Deletion - Frameshift; c.5351delA; 13:31811837-31811837 |
large_intestine; colon | carcinoma |
Deletion - Frameshift; c.2654delA; 13:31809146-31809146 |
breast | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.4550_4559del10; 13:31811042-31811051 |
y; breast | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.1217delC; 13:31804832-31804832 |
ovary | clear_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.4058_4065delAAACGGAC; 13:31810550-31810557 |
ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.9831delG; 13:31870481-31870481 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.4092_4093delAT; 13:31810584-31810585 |
endometrium | carcinoma |
Deletion - Frameshift; c.4550_4559del10; 13:31811042-31811051 |
y; breast | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.3638delA; 13:31810130-31810130 |
ovary | carcinoma |
Deletion - Frameshift; c.3686delT; 13:31810178-31810178 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.4216_4219delAAAG; 13:31810708-31810711 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.8087_8102del16; 13:31835426-31835441 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.7821delT; 13:31834675-31834675 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.3860delA; 13:31810352-31810352 |
large_intestine; colon | carcinoma |
Deletion - Frameshift; c.5946delT; 13:31812438-31812438 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.5555delT; 13:31812047-31812047 |
ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.4084delC; 13:31810576-31810576 |
kidney | clear_cell_renal_cell_carcinoma; carcinoma |
Other Mutation | | Top | |
There is no record for BRCA2 |