| Gene ID | 1673 |
| Symbol | DEFB4A |
| Synonymous | BD-2|DEFB-2|DEFB102|DEFB2|DEFB4|HBD-2|SAP1 |
| Full name | defensin, beta 4A |
| Gene description | beta defensin 2|beta defensin-2|beta-defensin 4A|defensin, beta 2|defensin, beta 4|skin-antimicrobial peptide 1 |
| Cytoband | 8p23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:602215; HGNC:HGNC:2767; Ensembl:ENSG00000171711; HPRD:03739; Vega:OTTHUMG00000129314 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.4A>G; p.R2G; 8:7894716-7894716 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.18C>T; p.L6L; 8:7894730-7894730 |
skin | malignant_melanoma | Substitution - coding silent |
c.30C>T; p.F10F; 8:7894742-7894742 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.46A>G; p.M16V; 8:7894758-7894758 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.84T>C; p.P28P; 8:7896499-7896499 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.84T>C; p.P28P; 8:7896499-7896499 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |