| Gene ID | 1672 |
| Symbol | DEFB1 |
| Synonymous | BD1|DEFB-1|DEFB101|HBD1 |
| Full name | defensin, beta 1 |
| Gene description | BD-1|beta defensin 1|beta-defensin 1|beta-defensin-1 |
| Cytoband | 8p23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:602056; HGNC:HGNC:2766; Ensembl:ENSG00000164825; HPRD:03634; Vega:OTTHUMG00000090367 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.8C>A; p.T3N; 8:6877850-6877850 |
breast | carcinoma | Substitution - Missense |
c.99T>A; p.D33E; 8:6870789-6870789 |
liver | carcinoma | Substitution - Missense |
c.99T>A; p.D33E; 8:6870789-6870789 |
liver | carcinoma | Substitution - Missense |
c.92G>A; p.R31K; 8:6870796-6870796 |
skin | malignant_melanoma | Substitution - Missense |
c.92G>A; p.R31K; 8:6870796-6870796 |
skin | malignant_melanoma | Substitution - Missense |
c.127C>T; p.Q43*; 8:6870761-6870761 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.79G>C; p.G27R; 8:6870809-6870809 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.124G>T; p.G42W; 8:6870764-6870764 |
liver | carcinoma | Substitution - Missense |
c.14A>G; p.Y5C; 8:6877844-6877844 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.73C>T; p.L25F; 8:6870815-6870815 |
skin | malignant_melanoma | Substitution - Missense |
c.128A>G; p.Q43R; 8:6870760-6870760 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |