Entrez Gene

Basic Information
Gene ID	5621
Name	PRNP
Synonymous	prion protein;PRNP;prion protein
Definition	CD230 antigen\|major prion protein\|prion-related protein
Position	20p13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.587A>G; p.E196G; 20:4699807-4699807	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.517A>C; p.N173H; 20:4699737-4699737	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.499G>A; p.D167N; 20:4699719-4699719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.732C>A; p.I244I; 20:4699952-4699952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.204T>C; p.P68P; 20:4699424-4699424	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.705C>T; p.F235F; 20:4699925-4699925	breast	carcinoma	Substitution - coding silent
c.228C>T; p.P76P; 20:4699448-4699448	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.259G>C; p.G87R; 20:4699479-4699479	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.194delG; p.Q67fs*43; 20:4699414-4699414	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.713C>T; p.P238L; 20:4699933-4699933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.662A>G; p.E221G; 20:4699882-4699882	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.222G>A; p.G74G; 20:4699442-4699442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.333C>T; p.H111H; 20:4699553-4699553	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.333C>T; p.H111H; 20:4699553-4699553	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.359C>A; p.A120E; 20:4699579-4699579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.R148C; 20:4699662-4699662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.571A>G; p.T191A; 20:4699791-4699791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.612G>T; p.K204N; 20:4699832-4699832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.564G>A; p.T188T; 20:4699784-4699784	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.564G>A; p.T188T; 20:4699784-4699784	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.293A>C; p.Q98P; 20:4699513-4699513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.730A>T; p.I244F; 20:4699950-4699950	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.275G>A; p.G92E; 20:4699495-4699495	skin	malignant_melanoma	Substitution - Missense
c.385A>G; p.M129V; 20:4699605-4699605	skin	malignant_melanoma	Substitution - Missense
c.385A>G; p.M129V; 20:4699605-4699605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385A>G; p.M129V; 20:4699605-4699605	central_nervous_system; brain	glioma	Substitution - Missense
c.385A>G; p.M129V; 20:4699605-4699605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385A>G; p.M129V; 20:4699605-4699605	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.387G>T; p.M129I; 20:4699607-4699607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385A>G; p.M129V; 20:4699605-4699605	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.385A>G; p.M129V; 20:4699605-4699605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.306G>A; p.P102P; 20:4699526-4699526	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.434A>G; p.Y145C; 20:4699654-4699654	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.452G>A; p.R151H; 20:4699672-4699672	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>A; p.V180I; 20:4699758-4699758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.249G>A; p.Q83Q; 20:4699469-4699469	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.423C>T; p.F141F; 20:4699643-4699643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.423C>T; p.F141F; 20:4699643-4699643	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.604G>T; p.D202Y; 20:4699824-4699824	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.625G>A; p.V209M; 20:4699845-4699845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.373C>T; p.L125F; 20:4699593-4699593	skin	malignant_melanoma	Substitution - Missense
c.689C>A; p.S230*; 20:4699909-4699909	liver	carcinoma	Substitution - Nonsense
c.689C>A; p.S230*; 20:4699909-4699909	liver	carcinoma	Substitution - Nonsense
c.604G>A; p.D202N; 20:4699824-4699824	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.77C>T; p.P26L; 20:4699297-4699297	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.603C>T; p.T201T; 20:4699823-4699823	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5C>A; p.A2E; 20:4699225-4699225	kidney	other; neoplasm	Substitution - Missense
c.44C>T; p.T15I; 20:4699264-4699264	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.44C>T; p.T15I; 20:4699264-4699264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.648C>A; p.T216T; 20:4699868-4699868	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.655G>A; p.E219K; 20:4699875-4699875	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.451C>T; p.R151C; 20:4699671-4699671	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.14G>C; p.G5A; 20:4699234-4699234	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.C179C; 20:4699757-4699757	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]