| Gene ID | 56616 |
| Symbol | DIABLO |
| Synonymous | DFNA64|SMAC |
| Full name | diablo, IAP-binding mitochondrial protein |
| Gene description | diablo homolog, mitochondrial|direct IAP-binding protein with low pI|second mitochondria-derived activator of caspase |
| Cytoband | 12q24.31 |
| Gene type | protein-coding |
| Synonymous | MIM:605219; HGNC:HGNC:21528; Ensembl:ENSG00000184047; HPRD:05560; Vega:OTTHUMG00000157014 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.167C>T; p.A56V; 12:122224528-122224528 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.167C>T; p.A56V; 12:122224528-122224528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.688T>C; p.S230P; 12:122208413-122208413 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.182A>G; p.Q61R; 12:122224513-122224513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>A; p.M1I; 12:122226012-122226012 |
skin | malignant_melanoma | Substitution - Missense |
c.201C>T; p.S67S; 12:122218380-122218380 |
skin | malignant_melanoma | Substitution - coding silent |
c.315G>T; p.K105N; 12:122218266-122218266 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.546C>T; p.T182T; 12:122208555-122208555 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666G>A; p.E222E; 12:122208435-122208435 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.545C>A; p.T182N; 12:122208556-122208556 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.545C>A; p.T182N; 12:122208556-122208556 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.545C>A; p.T182N; 12:122208556-122208556 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.545C>A; p.T182N; 12:122208556-122208556 |
breast | carcinoma | Substitution - Missense |
c.545C>A; p.T182N; 12:122208556-122208556 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.545C>A; p.T182N; 12:122208556-122208556 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.627A>T; p.A209A; 12:122208474-122208474 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.525C>T; p.G175G; 12:122208576-122208576 |
skin | malignant_melanoma | Substitution - coding silent |
c.525C>T; p.G175G; 12:122208576-122208576 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.351T>G; p.Y117*; 12:122216834-122216834 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.97C>T; p.R33W; 12:122224598-122224598 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.34G>T; p.V12L; 12:122225981-122225981 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.680G>T; p.R227L; 12:122208421-122208421 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.255C>A; p.T85T; 12:122218326-122218326 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.604C>T; p.R202W; 12:122208497-122208497 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.116T>A; p.I39K; 12:122224579-122224579 |
breast | carcinoma | Substitution - Missense |
c.459G>A; p.L153L; 12:122216552-122216552 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.284C>T; p.A95V; 12:122218297-122218297 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.96G>T; p.K32N; 12:122224599-122224599 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |