| Gene ID | 5366 |
| Symbol | PMAIP1 |
| Synonymous | APR|NOXA |
| Full name | phorbol-12-myristate-13-acetate-induced protein 1 |
| Gene description | PMA-induced protein 1|adult T cell leukemia-derived PMA-responsive|immediate-early-response protein APR|protein Noxa |
| Cytoband | 18q21.32 |
| Gene type | protein-coding |
| Synonymous | MIM:604959; HGNC:HGNC:9108; Ensembl:ENSG00000141682; HPRD:12002; Vega:OTTHUMG00000132765 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.95T>A; p.F32Y; 18:59902683-59902683 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.58+4C>T; p.?; 18:59900239-59900239 |
liver | carcinoma | Unknown |
c.58+4C>T; p.?; 18:59900239-59900239 |
liver | carcinoma | Unknown |
c.42C>T; p.P14P; 18:59900219-59900219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.88_90delAGG; p.R30delR; 18:59902676-59902678 |
breast | carcinoma | Deletion - In frame |
c.70G>T; p.E24*; 18:59902658-59902658 |
pancreas | carcinoma | Substitution - Nonsense |