| Gene ID | 578 |
| Symbol | BAK1 |
| Synonymous | BAK|BAK-LIKE|BCL2L7|CDN1 |
| Full name | BCL2-antagonist/killer 1 |
| Gene description | BCL2-like 7 protein|apoptosis regulator BAK|bcl-2 homologous antagonist/killer|bcl-2-like protein 7|bcl2-L-7|pro-apoptotic protein BAK |
| Cytoband | 6p21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600516; HGNC:HGNC:949; Ensembl:ENSG00000030110; HPRD:02744; Vega:OTTHUMG00000014530 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.328T>C; p.Y110H; 6:33575320-33575320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.420A>G; p.L140L; 6:33574145-33574145 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.220G>A; p.V74M; 6:33575428-33575428 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.624C>A; p.F208L; 6:33573815-33573815 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.71-3C>T; p.?; 6:33575931-33575931 |
breast | carcinoma | Unknown |
c.424G>A; p.V142I; 6:33574141-33574141 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.526G>A; p.G176S; 6:33574039-33574039 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.285C>T; p.T95T; 6:33575363-33575363 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.623T>A; p.F208Y; 6:33573816-33573816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.505C>T; p.R169W; 6:33574060-33574060 |
liver | carcinoma | Substitution - Missense |
c.263G>A; p.R88H; 6:33575385-33575385 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.155T>G; p.V52G; 6:33575844-33575844 |
breast | carcinoma | Substitution - Missense |
c.461T>G; p.V154G; 6:33574104-33574104 |
breast | carcinoma | Substitution - Missense |
c.585G>A; p.L195L; 6:33573854-33573854 |
skin | malignant_melanoma | Substitution - coding silent |
c.226C>T; p.R76W; 6:33575422-33575422 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.114C>T; p.Y38Y; 6:33575885-33575885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.114C>T; p.Y38Y; 6:33575885-33575885 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.182T>C; p.V61A; 6:33575817-33575817 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.617G>A; p.R206Q; 6:33573822-33573822 |
breast | carcinoma | Substitution - Missense |
c.430C>T; p.Q144*; 6:33574135-33574135 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.478G>A; p.D160N; 6:33574087-33574087 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.256A>G; p.N86D; 6:33575392-33575392 |
skin | malignant_melanoma | Substitution - Missense |
c.105C>T; p.F35F; 6:33575894-33575894 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.249C>T; p.D83D; 6:33575399-33575399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.42C>T; p.C14C; 6:33577563-33577563 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.602G>A; p.G201D; 6:33573837-33573837 |
skin; leg | malignant_melanoma; nodular | Substitution - Missense |