Entrez Gene

Basic Information
Gene ID	10686
Name	CLDN16
Synonymous	claudin 16;CLDN16;claudin 16
Definition	PCLN-1\|claudin-16\|hypomagnesemia 3, with hypercalciuria and nephrocalcinosis\|paracellin-1
Position	3q28
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.589G>C; p.A197P; 3:190404923-190404923	skin	malignant_melanoma	Substitution - Missense
c.186C>A; p.C62*; 3:190388305-190388305	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.714C>T; p.L238L; 3:190408435-190408435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.186C>A; p.C62*; 3:190388305-190388305	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.229T>C; p.Y77H; 3:190388348-190388348	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.499C>A; p.L167I; 3:190404833-190404833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.818T>C; p.L273S; 3:190409936-190409936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.626C>A; p.A209D; 3:190408347-190408347	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.742T>G; p.L248V; 3:190408463-190408463	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.505G>T; p.G169C; 3:190404839-190404839	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.334A>C; p.K112Q; 3:190402346-190402346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.31G>A; p.A11T; 3:190388150-190388150	skin	malignant_melanoma	Substitution - Missense
c.387C>T; p.R129R; 3:190402399-190402399	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.387C>T; p.R129R; 3:190402399-190402399	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.198G>A; p.G66G; 3:190388317-190388317	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.198G>A; p.G66G; 3:190388317-190388317	pancreas	carcinoma	Substitution - coding silent
c.198G>A; p.G66G; 3:190388317-190388317	pancreas	carcinoma	Substitution - coding silent
c.871C>T; p.P291S; 3:190409989-190409989	skin	malignant_melanoma	Substitution - Missense
c.485G>A; p.G162E; 3:190404819-190404819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.386G>A; p.R129H; 3:190402398-190402398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.386G>A; p.R129H; 3:190402398-190402398	central_nervous_system; brain	glioma	Substitution - Missense
c.386G>A; p.R129H; 3:190402398-190402398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.386G>A; p.R129H; 3:190402398-190402398	breast	carcinoma	Substitution - Missense
c.494_495CC>TT; p.T165I; 3:190404828-190404829	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887C>G; p.A296G; 3:190410005-190410005	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.385C>T; p.R129C; 3:190402397-190402397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.849C>T; p.S283S; 3:190409967-190409967	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.857A>C; p.K286T; 3:190409975-190409975	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.166delG; p.A56fs*16; 3:190388285-190388285	breast	carcinoma	Deletion - Frameshift
c.793C>G; p.P265A; 3:190409911-190409911	skin; extremity	malignant_melanoma	Substitution - Missense
c.166delG; p.A56fs*16; 3:190388285-190388285	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	large_intestine; colon	carcinoma	Deletion - Frameshift
c.692A>C; p.K231T; 3:190408413-190408413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166delG; p.A56fs*16; 3:190388285-190388285	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	large_intestine; colon	carcinoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	skin; axilla	malignant_melanoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	central_nervous_system; brain	glioma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	urinary_tract; bladder	carcinoma	Deletion - Frameshift
c.403G>A; p.D135N; 3:190402415-190402415	skin	malignant_melanoma	Substitution - Missense
c.166delG; p.A56fs*16; 3:190388285-190388285	central_nervous_system; brain	glioma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	skin; upper_leg	malignant_melanoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	lung	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	central_nervous_system; brain	glioma	Deletion - Frameshift
c.166delG; p.A56fs*16; 3:190388285-190388285	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.417G>A; p.A139A; 3:190402429-190402429	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.166G>C; p.A56P; 3:190388285-190388285	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.166G>C; p.A56P; 3:190388285-190388285	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.166G>C; p.A56P; 3:190388285-190388285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>A; p.A241D; 3:190408443-190408443	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.166G>C; p.A56P; 3:190388285-190388285	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.166G>C; p.A56P; 3:190388285-190388285	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.190C>T; p.P64S; 3:190388309-190388309	skin	malignant_melanoma	Substitution - Missense
c.282C>T; p.T94T; 3:190388401-190388401	skin	malignant_melanoma	Substitution - coding silent
c.226C>A; p.Q76K; 3:190388345-190388345	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.723T>C; p.A241A; 3:190408444-190408444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.723T>C; p.A241A; 3:190408444-190408444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.884C>T; p.T295M; 3:190410002-190410002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.348C>G; p.L116L; 3:190402360-190402360	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.211A>C; p.M71L; 3:190388330-190388330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.59C>G; p.S20*; 3:190388178-190388178	breast	carcinoma	Substitution - Nonsense
c.821G>A; p.R274K; 3:190409939-190409939	skin	malignant_melanoma	Substitution - Missense
c.821G>A; p.R274K; 3:190409939-190409939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.698G>T; p.G233V; 3:190408419-190408419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>T; p.A79S; 3:190388354-190388354	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.145C>T; p.R49C; 3:190388264-190388264	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.453G>T; p.L151F; 3:190404787-190404787	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.875G>A; p.R292H; 3:190409993-190409993	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.766T>C; p.C256R; 3:190408487-190408487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.868G>T; p.A290S; 3:190409986-190409986	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>A; p.L238L; 3:190408435-190408435	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.450G>A; p.A150A; 3:190404784-190404784	breast	carcinoma	Substitution - coding silent
c.450G>A; p.A150A; 3:190404784-190404784	breast	carcinoma	Substitution - coding silent
c.598C>A; p.P200T; 3:190408319-190408319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.715G>A; p.G239R; 3:190408436-190408436	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>A; p.R216H; 3:190408368-190408368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.86A>C; p.K29T; 3:190388205-190388205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.217G>A; p.D73N; 3:190388336-190388336	skin	malignant_melanoma	Substitution - Missense
c.217G>A; p.D73N; 3:190388336-190388336	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.164delG; p.A56fs*16; 3:190388283-190388283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.164delG; p.A56fs*16; 3:190388283-190388283	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.164delG; p.A56fs*16; 3:190388283-190388283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.164delG; p.A56fs*16; 3:190388283-190388283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.164delG; p.A56fs*16; 3:190388283-190388283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.405T>C; p.D135D; 3:190402417-190402417	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.446G>A; p.R149Q; 3:190404780-190404780	skin	malignant_melanoma	Substitution - Missense
c.484G>T; p.G162*; 3:190404818-190404818	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.885G>A; p.T295T; 3:190410003-190410003	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.146G>A; p.R49H; 3:190388265-190388265	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.838G>A; p.A280T; 3:190409956-190409956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.895T>C; p.Y299H; 3:190410013-190410013	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.361G>A; p.V121I; 3:190402373-190402373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.407C>T; p.S136F; 3:190402419-190402419	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.904G>C; p.D302H; 3:190410022-190410022	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.142A>C; p.T48P; 3:190388261-190388261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.142A>C; p.T48P; 3:190388261-190388261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.142A>C; p.T48P; 3:190388261-190388261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.142A>C; p.T48P; 3:190388261-190388261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.861A>G; p.S287S; 3:190409979-190409979	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.418G>A; p.E140K; 3:190402430-190402430	skin	malignant_melanoma	Substitution - Missense
c.688T>A; p.Y230N; 3:190408409-190408409	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.402C>T; p.Y134Y; 3:190402414-190402414	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.449C>T; p.A150V; 3:190404783-190404783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.744G>C; p.L248F; 3:190408465-190408465	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.519G>A; p.V173V; 3:190404853-190404853	skin	malignant_melanoma	Substitution - coding silent
c.81G>A; p.V27V; 3:190388200-190388200	urinary_tract; bladder	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]