Entrez Gene

Basic Information
Gene ID	11187
Name	PKP3
Synonymous	plakophilin 3;PKP3;plakophilin 3
Definition	plakophilin 3b\|plakophilin-3
Position	11p15
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.970G>C; p.A324P; 11:397564-397564	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830G>C; p.R277P; 11:397331-397331	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.919C>T; p.R307*; 11:397420-397420	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.919C>T; p.R307*; 11:397420-397420	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1116C>T; p.H372H; 11:399039-399039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1057G>A; p.A353T; 11:397651-397651	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1057G>A; p.A353T; 11:397651-397651	liver	carcinoma	Substitution - Missense
c.668C>G; p.S223C; 11:397169-397169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.521C>T; p.A174V; 11:397022-397022	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1930G>T; p.G644W; 11:403624-403624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.473C>A; p.P158H; 11:396974-396974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.961C>A; p.L321M; 11:397555-397555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.965C>T; p.P322L; 11:397559-397559	skin	malignant_melanoma	Substitution - Missense
c.1056C>T; p.A352A; 11:397650-397650	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1850G>A; p.R617H; 11:403190-403190	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1850G>A; p.R617H; 11:403190-403190	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.792C>T; p.G264G; 11:397293-397293	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.467C>T; p.P156L; 11:396968-396968	skin	malignant_melanoma	Substitution - Missense
c.1062G>A; p.K354K; 11:397656-397656	skin	malignant_melanoma	Substitution - coding silent
c.505G>A; p.G169R; 11:397006-397006	skin	malignant_melanoma	Substitution - Missense
c.500G>A; p.R167H; 11:397001-397001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.414C>T; p.N138N; 11:396915-396915	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.414C>T; p.N138N; 11:396915-396915	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2264G>A; p.R755Q; 11:404129-404129	skin	malignant_melanoma	Substitution - Missense
c.1416A>G; p.A472A; 11:400109-400109	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1416A>G; p.A472A; 11:400109-400109	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1416A>G; p.A472A; 11:400109-400109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1964G>A; p.R655H; 11:403658-403658	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1384delC; p.L464fs*183; 11:400077-400077	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1384delC; p.L464fs*183; 11:400077-400077	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1384delC; p.L464fs*183; 11:400077-400077	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1325G>A; p.R442K; 11:400018-400018	breast	carcinoma	Substitution - Missense
c.1439G>A; p.G480D; 11:400132-400132	liver	carcinoma	Substitution - Missense
c.1439G>A; p.G480D; 11:400132-400132	liver	carcinoma	Substitution - Missense
c.2203G>A; p.A735T; 11:404068-404068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.716C>T; p.P239L; 11:397217-397217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>A; p.P463P; 11:400082-400082	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.2013G>A; p.Q671Q; 11:403707-403707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2016G>A; p.L672L; 11:403710-403710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.703A>T; p.T235S; 11:397204-397204	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1558G>A; p.E520K; 11:400443-400443	oesophagus	carcinoma	Substitution - Missense
c.294G>A; p.L98L; 11:396669-396669	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1383_1384insC; p.L464fs*224; 11:400076-400077	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.627C>A; p.T209T; 11:397128-397128	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.284C>T; p.S95F; 11:396659-396659	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2369G>A; p.R790Q; 11:404544-404544	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1209C>T; p.N403N; 11:399132-399132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.342C>T; p.Y114Y; 11:396843-396843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2303C>T; p.S768F; 11:404268-404268	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2354G>A; p.R785Q; 11:404319-404319	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1347A>G; p.T449T; 11:400040-400040	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1881G>A; p.A627A; 11:403221-403221	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.290G>A; p.G97D; 11:396665-396665	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>G; p.L335V; 11:397597-397597	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1316G>A; p.R439H; 11:400009-400009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1316G>A; p.R439H; 11:400009-400009	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.541C>A; p.L181M; 11:397042-397042	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.973G>C; p.V325L; 11:397567-397567	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2368C>T; p.R790W; 11:404543-404543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2050C>T; p.R684W; 11:403744-403744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.415G>A; p.G139R; 11:396916-396916	skin	malignant_melanoma	Substitution - Missense
c.806G>T; p.G269V; 11:397307-397307	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1390C>T; p.L464F; 11:400083-400083	skin	malignant_melanoma	Substitution - Missense
c.1234C>A; p.L412M; 11:399157-399157	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.524A>G; p.D175G; 11:397025-397025	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.524A>G; p.D175G; 11:397025-397025	liver	carcinoma	Substitution - Missense
c.2220delG; p.Y741fs*>57; 11:404085-404085	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.678_679insG; p.L229fs*8; 11:397179-397180	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1987C>T; p.R663C; 11:403681-403681	breast	carcinoma	Substitution - Missense
c.1311G>A; p.K437K; 11:400004-400004	skin	malignant_melanoma	Substitution - coding silent
c.2023C>G; p.L675V; 11:403717-403717	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.909C>A; p.Y303*; 11:397410-397410	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2115G>A; p.P705P; 11:403980-403980	thyroid	other; neoplasm	Substitution - coding silent
c.504T>G; p.G168G; 11:397005-397005	skin	malignant_melanoma	Substitution - coding silent
c.767G>A; p.S256N; 11:397268-397268	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.968C>T; p.S323L; 11:397562-397562	breast	carcinoma	Substitution - Missense
c.1156C>T; p.R386C; 11:399079-399079	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2183T>C; p.L728P; 11:404048-404048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.758G>A; p.R253Q; 11:397259-397259	skin	malignant_melanoma	Substitution - Missense
c.565G>A; p.G189R; 11:397066-397066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1278_1279CC>TT; p.(=); 11:399971-399972	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1938G>T; p.L646L; 11:403632-403632	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1661G>A; p.G554D; 11:400629-400629	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1371delG; p.A459fs*188; 11:400064-400064	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.944+2T>G; p.?; 11:397447-397447	urinary_tract; bladder	carcinoma	Unknown
c.873G>A; p.S291S; 11:397374-397374	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1557C>G; p.C519W; 11:400442-400442	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1239G>T; p.R413R; 11:399162-399162	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.680G>T; p.G227V; 11:397181-397181	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.680G>T; p.G227V; 11:397181-397181	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2061G>T; p.R687S; 11:403755-403755	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.680G>T; p.G227V; 11:397181-397181	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1942C>T; p.R648C; 11:403636-403636	skin	malignant_melanoma	Substitution - Missense
c.1320G>C; p.L440L; 11:400013-400013	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1855G>A; p.E619K; 11:403195-403195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1468C>G; p.Q490E; 11:400353-400353	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.979T>A; p.Y327N; 11:397573-397573	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1973A>G; p.N658S; 11:403667-403667	skin	malignant_melanoma	Substitution - Missense
c.1107C>T; p.L369L; 11:399030-399030	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2382C>T; p.F794F; 11:404557-404557	skin	malignant_melanoma	Substitution - coding silent
c.2199C>T; p.P733P; 11:404064-404064	stomach	adenocarcinoma	Substitution - coding silent
c.1943G>A; p.R648H; 11:403637-403637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1727G>A; p.R576Q; 11:400695-400695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2352C>T; p.F784F; 11:404317-404317	thyroid	other; neoplasm	Substitution - coding silent
c.1130T>A; p.V377E; 11:399053-399053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2352C>T; p.F784F; 11:404317-404317	thyroid	other; neoplasm	Substitution - coding silent
c.2376G>A; p.E792E; 11:404551-404551	skin	malignant_melanoma	Substitution - coding silent
c.1768G>A; p.A590T; 11:403108-403108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1125G>A; p.Q375Q; 11:399048-399048	skin	malignant_melanoma	Substitution - coding silent
c.566G>A; p.G189E; 11:397067-397067	skin	malignant_melanoma	Substitution - Missense
c.1816C>T; p.Q606*; 11:403156-403156	skin	malignant_melanoma	Substitution - Nonsense
c.680G>A; p.G227E; 11:397181-397181	skin	malignant_melanoma	Substitution - Missense
c.2358G>A; p.A786A; 11:404323-404323	liver	carcinoma	Substitution - coding silent
c.682G>A; p.G228R; 11:397183-397183	skin	malignant_melanoma	Substitution - Missense
c.618C>G; p.A206A; 11:397119-397119	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.785G>T; p.G262V; 11:397286-397286	pancreas	carcinoma	Substitution - Missense
c.1899G>A; p.Q633Q; 11:403239-403239	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1899G>A; p.Q633Q; 11:403239-403239	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1899G>A; p.Q633Q; 11:403239-403239	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2002G>A; p.D668N; 11:403696-403696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.572T>G; p.L191R; 11:397073-397073	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2237G>A; p.R746Q; 11:404102-404102	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]