| Gene ID | 221120 |
| Symbol | ALKBH3 |
| Synonymous | ABH3|DEPC-1|DEPC1|PCA1 |
| Full name | alkB, alkylation repair homolog 3 (E. coli) |
| Gene description | alkylated DNA repair protein alkB homolog 3|alpha-ketoglutarate-dependent dioxygenase alkB homolog 3|prostate cancer antigen 1|prostate cancer antigen-1 |
| Cytoband | 11p11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:610603; HGNC:HGNC:30141; Ensembl:ENSG00000166199; HPRD:16793; Vega:OTTHUMG00000166417 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.231G>T; p.V77V; 11:43886618-43886618 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.486G>A; p.K162K; 11:43901542-43901542 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.772C>T; p.R258*; 11:43919921-43919921 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.216T>C; p.I72I; 11:43884015-43884015 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.829G>A; p.V277I; 11:43919978-43919978 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.760G>A; p.D254N; 11:43919128-43919128 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.564G>A; p.V188V; 11:43901620-43901620 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.824G>A; p.R275Q; 11:43919973-43919973 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.376A>G; p.T126A; 11:43892046-43892046 |
skin | malignant_melanoma | Substitution - Missense |
c.732G>C; p.L244F; 11:43919100-43919100 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.800A>T; p.E267V; 11:43919949-43919949 |
skin | malignant_melanoma | Substitution - Missense |
c.684C>G; p.D228E; 11:43919052-43919052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.684C>G; p.D228E; 11:43919052-43919052 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.238A>C; p.I80L; 11:43886625-43886625 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.17G>A; p.R6Q; 11:43882669-43882669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.17G>A; p.R6Q; 11:43882669-43882669 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.511C>A; p.H171N; 11:43901567-43901567 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.296T>C; p.V99A; 11:43889754-43889754 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.503A>C; p.N168T; 11:43901559-43901559 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.46G>A; p.A16T; 11:43882698-43882698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.191G>A; p.R64H; 11:43883990-43883990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.52G>A; p.V18I; 11:43882704-43882704 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.769-7C>T; p.?; 11:43919911-43919911 |
pancreas | carcinoma | Unknown |
c.334G>C; p.D112H; 11:43889792-43889792 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.637C>T; p.R213C; 11:43901693-43901693 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.404G>A; p.W135*; 11:43892074-43892074 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.778C>T; p.P260S; 11:43919927-43919927 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.552G>C; p.E184D; 11:43901608-43901608 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.552G>C; p.E184D; 11:43901608-43901608 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.552G>C; p.E184D; 11:43901608-43901608 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.552G>C; p.E184D; 11:43901608-43901608 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.669+1G>T; p.?; 11:43901726-43901726 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.804G>A; p.P268P; 11:43919953-43919953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.856T>C; p.W286R; 11:43920005-43920005 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.544C>T; p.R182C; 11:43901600-43901600 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.718G>A; p.D240N; 11:43919086-43919086 |
breast | carcinoma | Substitution - Missense |
c.544C>T; p.R182C; 11:43901600-43901600 |
NS | malignant_melanoma | Substitution - Missense |
c.544C>T; p.R182C; 11:43901600-43901600 |
NS | malignant_melanoma | Substitution - Missense |
c.718G>T; p.D240Y; 11:43919086-43919086 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.240C>T; p.I80I; 11:43886627-43886627 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.499G>C; p.E167Q; 11:43901555-43901555 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.276G>T; p.L92F; 11:43889734-43889734 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.276G>T; p.L92F; 11:43889734-43889734 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.459C>T; p.H153H; 11:43892129-43892129 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.266+5G>A; p.?; 11:43886658-43886658 |
kidney | other; neoplasm | Unknown |
c.641C>T; p.T214I; 11:43901697-43901697 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.501G>A; p.E167E; 11:43901557-43901557 |
ovary | other; neoplasm | Substitution - coding silent |
c.491G>A; p.R164H; 11:43901547-43901547 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.490C>A; p.R164S; 11:43901546-43901546 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.12A>C; p.K4N; 11:43882664-43882664 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.561C>T; p.S187S; 11:43901617-43901617 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.222A>G; p.R74R; 11:43886609-43886609 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.190C>T; p.R64C; 11:43883989-43883989 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.750G>A; p.A250A; 11:43919118-43919118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.750G>A; p.A250A; 11:43919118-43919118 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.750G>A; p.A250A; 11:43919118-43919118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.605C>T; p.P202L; 11:43901661-43901661 |
skin | malignant_melanoma | Substitution - Missense |
c.604C>T; p.P202S; 11:43901660-43901660 |
skin | malignant_melanoma | Substitution - Missense |
c.284G>T; p.G95V; 11:43889742-43889742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.475C>T; p.R159C; 11:43901531-43901531 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |