| Gene ID | 1028 |
| Symbol | CDKN1C |
| Synonymous | BWCR|BWS|KIP2|WBS|p57|p57Kip2 |
| Full name | cyclin-dependent kinase inhibitor 1C (p57, Kip2) |
| Gene description | cyclin-dependent kinase inhibitor 1C|cyclin-dependent kinase inhibitor p57 |
| Cytoband | 11p15.5 |
| Gene type | protein-coding |
| Synonymous | MIM:600856; HGNC:HGNC:1786; Ensembl:ENSG00000129757; HPRD:02913; Vega:OTTHUMG00000010040 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.776C>A; p.A259D; 11:2884714-2884714 |
liver | carcinoma | Substitution - Missense |
c.135_136insT; p.L46fs*79; 11:2885354-2885355 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Insertion - Frameshift |
c.768C>T; p.A256A; 11:2884722-2884722 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.466C>A; p.P156T; 11:2885024-2885024 |
thyroid | other; neoplasm | Substitution - Missense |
c.147C>T; p.R49R; 11:2885343-2885343 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.496G>C; p.A166P; 11:2884994-2884994 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.805G>A; p.G269R; 11:2884685-2884685 |
liver | carcinoma | Substitution - Missense |
c.303C>T; p.R101R; 11:2885187-2885187 |
ovary | other; neoplasm | Substitution - coding silent |
c.735G>A; p.G245G; 11:2884755-2884755 |
skin | malignant_melanoma | Substitution - coding silent |
c.262C>T; p.P88S; 11:2885228-2885228 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.205A>G; p.M69V; 11:2885285-2885285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.48C>T; p.V16V; 11:2885442-2885442 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.196delC; p.Q66fs*206; 11:2885294-2885294 |
prostate | adenoma | Deletion - Frameshift |
c.182G>A; p.W61*; 11:2885308-2885308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.908G>T; p.G303V; 11:2884047-2884047 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.171C>A; p.D57E; 11:2885319-2885319 |
thyroid | other; neoplasm | Substitution - Missense |
c.102C>T; p.F34F; 11:2885388-2885388 |
skin | malignant_melanoma | Substitution - coding silent |