| Gene ID | 1476 |
| Symbol | CSTB |
| Synonymous | CST6|EPM1|EPM1A|PME|STFB|ULD |
| Full name | cystatin B (stefin B) |
| Gene description | CPI-B|cystatin-B|liver thiol proteinase inhibitor |
| Cytoband | 21q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:601145; HGNC:HGNC:2482; HPRD:03091 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.290A>T; p.Y97F; 21:43774209-43774209 |
liver | carcinoma | Substitution - Missense |
c.290A>T; p.Y97F; 21:43774209-43774209 |
liver | carcinoma | Substitution - Missense |
c.45G>A; p.E15E; 21:43776225-43776225 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.175G>A; p.V59I; 21:43774324-43774324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.162C>T; p.F54F; 21:43774664-43774664 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.220C>T; p.P74S; 21:43774279-43774279 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.99G>C; p.K33N; 21:43774727-43774727 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.119C>G; p.A40G; 21:43774707-43774707 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.172C>T; p.H58Y; 21:43774327-43774327 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.205G>A; p.V69M; 21:43774294-43774294 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |