| Gene ID | 51208 |
| Symbol | CLDN18 |
| Synonymous | SFTA5|SFTPJ |
| Full name | claudin 18 |
| Gene description | claudin-18|surfactant associated 5|surfactant associated protein J|surfactant, pulmonary associated protein J |
| Cytoband | 3q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:609210; HGNC:HGNC:2039; Ensembl:ENSG00000066405; HPRD:13066; Vega:OTTHUMG00000159762 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.262G>T; p.V88F; 3:138023699-138023699 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.58G>A; p.G20S; 3:138010283-138010283 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.697T>A; p.S233T; 3:138031052-138031052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.697T>A; p.S233T; 3:138031052-138031052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.232G>A; p.A78T; 3:138023669-138023669 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.145C>T; p.L49F; 3:138010370-138010370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.162G>A; p.V54V; 3:138010387-138010387 |
breast | carcinoma | Substitution - coding silent |
c.388C>A; p.L130I; 3:138024609-138024609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.679G>A; p.A227T; 3:138031034-138031034 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.660C>T; p.Y220Y; 3:138031015-138031015 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.283C>T; p.L95L; 3:138023720-138023720 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.750G>T; p.E250D; 3:138031105-138031105 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.366G>A; p.G122G; 3:138023803-138023803 |
skin | malignant_melanoma | Substitution - coding silent |
c.750G>T; p.E250D; 3:138031105-138031105 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391T>G; p.C131G; 3:138024612-138024612 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.45C>T; p.I15I; 3:138010270-138010270 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.427C>A; p.L143M; 3:138024648-138024648 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.240A>G; p.R80R; 3:138023677-138023677 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13A>G; p.T5A; 3:138010238-138010238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.637G>A; p.A213T; 3:138030992-138030992 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.479G>A; p.G160E; 3:138024700-138024700 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.347A>T; p.N116I; 3:138023784-138023784 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.199T>G; p.F67V; 3:138010424-138010424 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.314G>A; p.R105H; 3:138023751-138023751 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.239G>A; p.R80Q; 3:138023676-138023676 |
skin | malignant_melanoma | Substitution - Missense |
c.239G>A; p.R80Q; 3:138023676-138023676 |
skin | malignant_melanoma | Substitution - Missense |
c.704C>A; p.T235N; 3:138031059-138031059 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.657C>A; p.A219A; 3:138031012-138031012 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.238C>T; p.R80*; 3:138023675-138023675 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.238C>T; p.R80*; 3:138023675-138023675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.273C>T; p.A91A; 3:138023710-138023710 |
pancreas | carcinoma | Substitution - coding silent |
c.393T>C; p.C131C; 3:138024614-138024614 |
skin | malignant_melanoma | Substitution - coding silent |
c.573G>A; p.M191I; 3:138029866-138029866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.774C>A; p.H258Q; 3:138031129-138031129 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.664C>A; p.P222T; 3:138031019-138031019 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.504-8C>A; p.?; 3:138029789-138029789 |
liver | carcinoma | Unknown |
c.109G>T; p.D37Y; 3:138010334-138010334 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.238C>A; p.R80R; 3:138023675-138023675 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.59G>T; p.G20V; 3:138010284-138010284 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.82G>A; p.D28N; 3:138010307-138010307 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.420C>A; p.A140A; 3:138024641-138024641 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.775G>A; p.D259N; 3:138031130-138031130 |
skin | malignant_melanoma | Substitution - Missense |
c.689G>A; p.G230D; 3:138031044-138031044 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672C>T; p.G224G; 3:138031027-138031027 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.748G>A; p.E250K; 3:138031103-138031103 |
skin | malignant_melanoma | Substitution - Missense |
c.50G>A; p.G17E; 3:138010275-138010275 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.593G>A; p.G198D; 3:138029886-138029886 |
breast | carcinoma | Substitution - Missense |
c.247A>G; p.M83V; 3:138023684-138023684 |
skin | malignant_melanoma | Substitution - Missense |
c.629C>A; p.S210Y; 3:138030984-138030984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.81G>A; p.M27I; 3:138010306-138010306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.401C>T; p.A134V; 3:138024622-138024622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.503G>A; p.R168K; 3:138024724-138024724 |
skin | malignant_melanoma | Substitution - Missense |
c.160G>A; p.V54M; 3:138010385-138010385 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.296T>G; p.F99C; 3:138023733-138023733 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |