Entrez Gene

Basic Information
Gene ID	51343
Name	FZR1
Synonymous	fizzy/cell division cycle 20 related 1 (Drosophila);FZR1;fizzy/cell division cycle 20 related 1 (Drosophila)
Definition	CDC20-like 1b\|CDC20-like protein 1\|cdh1/Hct1 homolog\|fizzy-related protein homolog
Position	19p13.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.39C>T; p.I13I; 19:3523028-3523028	skin	malignant_melanoma	Substitution - coding silent
c.1042G>A; p.V348M; 19:3532450-3532450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1430G>A; p.R477H; 19:3534503-3534503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1064T>C; p.L355P; 19:3532472-3532472	pancreas	carcinoma	Substitution - Missense
c.734C>T; p.A245V; 19:3531727-3531727	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.149C>T; p.P50L; 19:3525947-3525947	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.501C>A; p.P167P; 19:3527661-3527661	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1333C>A; p.R445S; 19:3533384-3533384	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1333C>A; p.R445S; 19:3533384-3533384	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1070_1071CC>TT; p.A357V; 19:3532478-3532479	skin	malignant_melanoma	Substitution - Missense
c.149C>A; p.P50H; 19:3525947-3525947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.52G>A; p.E18K; 19:3523041-3523041	thyroid	carcinoma	Substitution - Missense
c.1057G>T; p.E353*; 19:3532465-3532465	pleura	pulmonary_blastoma	Substitution - Nonsense
c.659C>T; p.T220M; 19:3530796-3530796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590C>T; p.S197F; 19:3527750-3527750	meninges	meningioma; secretory	Substitution - Missense
c.1457T>A; p.L486H; 19:3534811-3534811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.494G>A; p.R165Q; 19:3527654-3527654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1049A>T; p.Q350L; 19:3532457-3532457	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.487_488insC; p.R165fs*60; 19:3527647-3527648	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.418G>A; p.D140N; 19:3527010-3527010	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.288G>T; p.K96N; 19:3526287-3526287	thyroid	other; neoplasm	Substitution - Missense
c.1333C>T; p.R445C; 19:3533384-3533384	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1251G>T; p.T417T; 19:3533302-3533302	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.718C>T; p.R240W; 19:3530855-3530855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.253G>A; p.G85S; 19:3526177-3526177	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1161G>A; p.T387T; 19:3532569-3532569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1292C>T; p.P431L; 19:3533343-3533343	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.148C>T; p.P50S; 19:3525946-3525946	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.515C>T; p.S172F; 19:3527675-3527675	skin	malignant_melanoma	Substitution - Missense
c.148C>T; p.P50S; 19:3525946-3525946	skin	malignant_melanoma	Substitution - Missense
c.173G>A; p.S58N; 19:3525971-3525971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.444C>G; p.Y148*; 19:3527036-3527036	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.404A>C; p.K135T; 19:3526996-3526996	ovary	other; neoplasm	Substitution - Missense
c.1293C>A; p.P431P; 19:3533344-3533344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.209C>T; p.S70F; 19:3526133-3526133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.90C>T; p.T30T; 19:3525888-3525888	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.84G>A; p.R28R; 19:3525882-3525882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.587C>T; p.S196L; 19:3527747-3527747	skin	malignant_melanoma	Substitution - Missense
c.600G>T; p.V200V; 19:3527760-3527760	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1084G>A; p.A362T; 19:3532492-3532492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>A; p.D224N; 19:3530807-3530807	liver	carcinoma	Substitution - Missense
c.670G>A; p.D224N; 19:3530807-3530807	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.484C>T; p.R162W; 19:3527644-3527644	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1201C>T; p.Q401*; 19:3532609-3532609	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.698C>A; p.T233N; 19:3530835-3530835	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.32G>A; p.R11H; 19:3523021-3523021	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.989_990insG; p.N333fs*47; 19:3532076-3532077	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1328C>T; p.S443F; 19:3533379-3533379	skin	malignant_melanoma	Substitution - Missense
c.252C>A; p.N84K; 19:3526176-3526176	skin	malignant_melanoma	Substitution - Missense
c.120G>A; p.S40S; 19:3525918-3525918	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.447C>T; p.S149S; 19:3527039-3527039	skin	malignant_melanoma	Substitution - coding silent
c.447C>T; p.S149S; 19:3527039-3527039	skin	malignant_melanoma	Substitution - coding silent
c.263G>T; p.G88V; 19:3526262-3526262	skin	malignant_melanoma	Substitution - Missense
c.937C>T; p.R313W; 19:3532024-3532024	skin	malignant_melanoma	Substitution - Missense
c.528C>T; p.F176F; 19:3527688-3527688	skin	malignant_melanoma	Substitution - coding silent
c.652C>T; p.Q218*; 19:3527812-3527812	prostate	carcinoma	Substitution - Nonsense
c.171G>C; p.W57C; 19:3525969-3525969	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.938G>A; p.R313Q; 19:3532025-3532025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1202A>G; p.Q401R; 19:3532610-3532610	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1478G>A; p.R493Q; 19:3534832-3534832	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.648C>T; p.T216T; 19:3527808-3527808	skin	malignant_melanoma	Substitution - coding silent
c.870C>T; p.D290D; 19:3531957-3531957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.818G>A; p.R273H; 19:3531811-3531811	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1287G>A; p.K429K; 19:3533338-3533338	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1429C>T; p.R477C; 19:3534502-3534502	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1440+8G>A; p.?; 19:3534521-3534521	NS	malignant_melanoma	Unknown
c.393C>T; p.S131S; 19:3526985-3526985	skin	malignant_melanoma	Substitution - coding silent
c.1354_1355insC; p.D454fs*1; 19:3534427-3534428	autonomic_ganglia	neuroblastoma	Insertion - Frameshift
c.1193C>T; p.T398M; 19:3532601-3532601	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.48G>C; p.Q16H; 19:3523037-3523037	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.591C>A; p.S197S; 19:3527751-3527751	skin	malignant_melanoma	Substitution - coding silent
c.758T>C; p.V253A; 19:3531751-3531751	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.757G>A; p.V253M; 19:3531750-3531750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.V253M; 19:3531750-3531750	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.523C>G; p.P175A; 19:3527683-3527683	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1333C>G; p.R445G; 19:3533384-3533384	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1333C>G; p.R445G; 19:3533384-3533384	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.23G>A; p.R8H; 19:3523012-3523012	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.662G>A; p.R221Q; 19:3530799-3530799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.386delC; p.T129fs*77; 19:3526385-3526385	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1451C>T; p.S484F; 19:3534805-3534805	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1417delT; p.F473fs*>21; 19:3534490-3534490	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Deletion - Frameshift
c.576G>C; p.L192L; 19:3527736-3527736	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1024C>G; p.H342D; 19:3532432-3532432	liver	carcinoma	Substitution - Missense
c.1024C>G; p.H342D; 19:3532432-3532432	liver	carcinoma	Substitution - Missense
c.1119delG; p.G375fs*14; 19:3532527-3532527	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1119delG; p.G375fs*14; 19:3532527-3532527	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1281C>A; p.V427V; 19:3533332-3533332	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1433C>T; p.S478L; 19:3534506-3534506	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1111C>A; p.L371M; 19:3532519-3532519	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.263G>A; p.G88D; 19:3526262-3526262	skin	malignant_melanoma	Substitution - Missense
c.280_284delCTGCT; p.L94fs*3; 19:3526279-3526283	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.40G>A; p.V14I; 19:3523029-3523029	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.241delA; p.T81fs*125; 19:3526165-3526165	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947T>G; p.V316G; 19:3532034-3532034	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 19:3531985-3531985	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1126G>C; p.G376R; 19:3532534-3532534	central_nervous_system; brain	glioma	Substitution - Missense
c.426C>T; p.G142G; 19:3527018-3527018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.454C>A; p.P152T; 19:3527046-3527046	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1450T>A; p.S484T; 19:3534804-3534804	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.337G>T; p.E113*; 19:3526336-3526336	large_intestine	adenoma	Substitution - Nonsense

COSMIC somatic mutation [Top]