| Gene ID | 1365 |
| Symbol | CLDN3 |
| Synonymous | C7orf1|CPE-R2|CPETR2|HRVP1|RVP1 |
| Full name | claudin 3 |
| Gene description | CPE-R 2|CPE-receptor 2|Clostridium perfringens enterotoxin receptor 2|claudin-3|ventral prostate.1 protein homolog|ventral prostate.1-like protein |
| Cytoband | 7q11.23 |
| Gene type | protein-coding |
| Synonymous | MIM:602910; HGNC:HGNC:2045; Ensembl:ENSG00000165215; HPRD:04219; Vega:OTTHUMG00000023424 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.236C>A; p.A79D; 7:73769814-73769814 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.90C>T; p.R30R; 7:73769960-73769960 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.433G>A; p.D145N; 7:73769617-73769617 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.83_84TG>AA; p.M28K; 7:73769966-73769967 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.450G>C; p.V150V; 7:73769600-73769600 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.139G>A; p.E47K; 7:73769911-73769911 |
skin | malignant_melanoma | Substitution - Missense |
c.150G>T; p.W50C; 7:73769900-73769900 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.113A>T; p.N38I; 7:73769937-73769937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.345G>C; p.K115N; 7:73769705-73769705 |
liver | carcinoma | Substitution - Missense |
c.647G>A; p.R216H; 7:73769403-73769403 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.372C>T; p.F124F; 7:73769678-73769678 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.250G>A; p.V84M; 7:73769800-73769800 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.110G>A; p.S37N; 7:73769940-73769940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.575C>A; p.T192K; 7:73769475-73769475 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.180G>A; p.Q60Q; 7:73769870-73769870 |
skin | malignant_melanoma | Substitution - coding silent |
c.54G>A; p.L18L; 7:73769996-73769996 |
skin | malignant_melanoma | Substitution - coding silent |
c.472G>T; p.E158*; 7:73769578-73769578 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.163G>C; p.V55L; 7:73769887-73769887 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |