| Gene ID | 9075 |
| Symbol | CLDN2 |
| Synonymous | - |
| Full name | claudin 2 |
| Gene description | SP82|claudin-2 |
| Cytoband | Xq22.3-q23 |
| Gene type | protein-coding |
| Synonymous | MIM:300520; HGNC:HGNC:2041; Ensembl:ENSG00000165376; HPRD:06471; Vega:OTTHUMG00000022154 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.618G>A; p.R206R; 23:106928846-106928846 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.468G>T; p.M156I; 23:106928696-106928696 |
skin | malignant_melanoma | Substitution - Missense |
c.156G>A; p.M52I; 23:106928384-106928384 |
skin | malignant_melanoma | Substitution - Missense |
c.217C>A; p.L73M; 23:106928445-106928445 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.258_259insT; p.S87fs*68; 23:106928486-106928487 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.258_259insT; p.S87fs*68; 23:106928486-106928487 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.548T>A; p.F183Y; 23:106928776-106928776 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.323G>T; p.C108F; 23:106928551-106928551 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.682G>A; p.G228R; 23:106928910-106928910 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.414G>C; p.W138C; 23:106928642-106928642 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.433C>T; p.R145W; 23:106928661-106928661 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.468G>A; p.M156I; 23:106928696-106928696 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.468G>A; p.M156I; 23:106928696-106928696 |
skin | malignant_melanoma | Substitution - Missense |
c.101C>A; p.S34Y; 23:106928329-106928329 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.366A>G; p.G122G; 23:106928594-106928594 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.167C>A; p.T56K; 23:106928395-106928395 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.167C>A; p.T56K; 23:106928395-106928395 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.161G>A; p.C54Y; 23:106928389-106928389 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.100T>C; p.S34P; 23:106928328-106928328 |
kidney | other; neoplasm | Substitution - Missense |
c.10C>A; p.L4I; 23:106928238-106928238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.171_172delCA; p.H57fs*8; 23:106928399-106928400 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.385G>A; p.G129S; 23:106928613-106928613 |
skin | malignant_melanoma | Substitution - Missense |
c.566G>T; p.R189I; 23:106928794-106928794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.150C>G; p.L50L; 23:106928378-106928378 |
breast | carcinoma | Substitution - coding silent |
c.490_494delCTTTA; p.Y165fs*54; 23:106928718-106928722 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.369C>G; p.V123V; 23:106928597-106928597 |
breast | carcinoma | Substitution - coding silent |
c.221_222CC>TT; p.P74L; 23:106928449-106928450 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.227A>G; p.D76G; 23:106928455-106928455 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.646A>C; p.K216Q; 23:106928874-106928874 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.363T>G; p.G121G; 23:106928591-106928591 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.16C>A; p.L6I; 23:106928244-106928244 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.165_166delCA; p.H57fs*8; 23:106928393-106928394 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.215G>A; p.G72D; 23:106928443-106928443 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.60C>A; p.G20G; 23:106928288-106928288 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426G>A; p.G142G; 23:106928654-106928654 |
skin | malignant_melanoma | Substitution - coding silent |
c.166A>G; p.T56A; 23:106928394-106928394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.328G>A; p.E110K; 23:106928556-106928556 |
skin | malignant_melanoma | Substitution - Missense |
c.161G>T; p.C54F; 23:106928389-106928389 |
skin | malignant_melanoma | Substitution - Missense |
c.101C>T; p.S34F; 23:106928329-106928329 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.410C>T; p.A137V; 23:106928638-106928638 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.410C>T; p.A137V; 23:106928638-106928638 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.429C>A; p.I143I; 23:106928657-106928657 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325C>T; p.Q109*; 23:106928553-106928553 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |