Entrez Gene

Basic Information
Gene ID	22794
Name	CASC3
Synonymous	cancer susceptibility candidate 3;CASC3;cancer susceptibility candidate 3
Definition	MLN 51\|barentsz\|cancer susceptibility candidate gene 3 protein\|metastatic lymph node 51\|metastatic lymph node gene 51 protein\|protein CASC3\|protein barentsz
Position	17q21.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1460G>T; p.R487L; 17:40164155-40164155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2014C>A; p.Q672K; 17:40169372-40169372	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.486G>A; p.V162V; 17:40162031-40162031	thyroid	carcinoma	Substitution - coding silent
c.1370C>T; p.S457F; 17:40164065-40164065	breast	carcinoma	Substitution - Missense
c.1808C>T; p.P603L; 17:40168260-40168260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1893T>C; p.G631G; 17:40168345-40168345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1808C>T; p.P603L; 17:40168260-40168260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1808C>T; p.P603L; 17:40168260-40168260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.513T>G; p.D171E; 17:40162058-40162058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1438C>T; p.Q480*; 17:40164133-40164133	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1552C>T; p.R518*; 17:40167513-40167513	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1881C>T; p.V627V; 17:40168333-40168333	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1881C>T; p.V627V; 17:40168333-40168333	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1881C>T; p.V627V; 17:40168333-40168333	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.134G>C; p.S45T; 17:40140682-40140682	breast	carcinoma	Substitution - Missense
c.1011C>A; p.G337G; 17:40163706-40163706	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1767G>C; p.Q589H; 17:40168219-40168219	breast	carcinoma	Substitution - Missense
c.488G>A; p.G163D; 17:40162033-40162033	skin	malignant_melanoma	Substitution - Missense
c.968G>C; p.R323P; 17:40163663-40163663	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.671_672GG>AA; p.R224Q; 17:40162787-40162788	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1816A>G; p.M606V; 17:40168268-40168268	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.967C>T; p.R323C; 17:40163662-40163662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1606C>T; p.P536S; 17:40167567-40167567	skin	malignant_melanoma	Substitution - Missense
c.592C>T; p.Q198*; 17:40162137-40162137	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.592C>T; p.Q198*; 17:40162137-40162137	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1366G>T; p.D456Y; 17:40164061-40164061	central_nervous_system; brain	glioma	Substitution - Missense
c.1934C>T; p.P645L; 17:40168386-40168386	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1934C>T; p.P645L; 17:40168386-40168386	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.952G>A; p.G318S; 17:40163647-40163647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1567T>C; p.S523P; 17:40167528-40167528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1934C>T; p.P645L; 17:40168386-40168386	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.334A>C; p.K112Q; 17:40161789-40161789	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1760C>T; p.P587L; 17:40168212-40168212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1314A>G; p.P438P; 17:40164009-40164009	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.449A>G; p.D150G; 17:40161904-40161904	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.14G>C; p.R5P; 17:40140562-40140562	skin	malignant_melanoma	Substitution - Missense
c.2045G>A; p.R682Q; 17:40169403-40169403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1639T>G; p.Y547D; 17:40167600-40167600	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.312A>G; p.E104E; 17:40161767-40161767	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.450C>T; p.D150D; 17:40161905-40161905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.450C>T; p.D150D; 17:40161905-40161905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.620G>A; p.R207H; 17:40162736-40162736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.450C>T; p.D150D; 17:40161905-40161905	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1878C>T; p.G626G; 17:40168330-40168330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1571C>T; p.S524F; 17:40167532-40167532	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>T; p.P250S; 17:40162864-40162864	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.695C>T; p.S232F; 17:40162811-40162811	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.695C>T; p.S232F; 17:40162811-40162811	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>T; p.P250S; 17:40162864-40162864	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.695C>T; p.S232F; 17:40162811-40162811	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.232G>T; p.E78*; 17:40141207-40141207	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.523G>A; p.D175N; 17:40162068-40162068	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1648C>T; p.P550S; 17:40167609-40167609	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.P550S; 17:40167609-40167609	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1011C>T; p.G337G; 17:40163706-40163706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1011C>T; p.G337G; 17:40163706-40163706	skin	malignant_melanoma	Substitution - coding silent
c.1620C>T; p.I540I; 17:40167581-40167581	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1620C>T; p.I540I; 17:40167581-40167581	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.785+1G>T; p.?; 17:40162902-40162902	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.304G>T; p.E102*; 17:40161759-40161759	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1932C>G; p.P644P; 17:40168384-40168384	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1021G>A; p.E341K; 17:40163716-40163716	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1021G>A; p.E341K; 17:40163716-40163716	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1362G>T; p.P454P; 17:40164057-40164057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1970C>T; p.P657L; 17:40169328-40169328	skin	malignant_melanoma	Substitution - Missense
c.352G>A; p.E118K; 17:40161807-40161807	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1603G>A; p.A535T; 17:40167564-40167564	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1013G>A; p.R338Q; 17:40163708-40163708	thyroid	carcinoma	Substitution - Missense
c.862delG; p.G289fs*66; 17:40163557-40163557	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.402A>G; p.E134E; 17:40161857-40161857	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.490delA; p.K165fs*114; 17:40162035-40162035	skin	malignant_melanoma	Deletion - Frameshift
c.2064C>A; p.V688V; 17:40169422-40169422	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.270G>T; p.S90S; 17:40141580-40141580	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1751-6A>G; p.?; 17:40168197-40168197	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1601C>T; p.P534L; 17:40167562-40167562	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.149C>A; p.S50*; 17:40140697-40140697	breast	carcinoma	Substitution - Nonsense
c.2076C>T; p.P692P; 17:40169434-40169434	skin	malignant_melanoma	Substitution - coding silent
c.830G>T; p.R277L; 17:40163525-40163525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2007C>T; p.P669P; 17:40169365-40169365	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1208C>T; p.S403F; 17:40163903-40163903	skin	malignant_melanoma	Substitution - Missense
c.531G>T; p.K177N; 17:40162076-40162076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1208C>T; p.S403F; 17:40163903-40163903	skin	malignant_melanoma	Substitution - Missense
c.957C>T; p.F319F; 17:40163652-40163652	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1935A>C; p.P645P; 17:40168387-40168387	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1226G>T; p.R409I; 17:40163921-40163921	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1311C>T; p.V437V; 17:40164006-40164006	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.913G>A; p.G305S; 17:40163608-40163608	pancreas	carcinoma	Substitution - Missense
c.1014G>T; p.R338R; 17:40163709-40163709	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.27T>A; p.A9A; 17:40140575-40140575	liver	carcinoma	Substitution - coding silent
c.1030A>T; p.K344*; 17:40163725-40163725	skin	malignant_melanoma	Substitution - Nonsense
c.27T>A; p.A9A; 17:40140575-40140575	liver	carcinoma	Substitution - coding silent
c.847C>A; p.R283S; 17:40163542-40163542	thyroid	other; neoplasm	Substitution - Missense
c.636G>A; p.W212*; 17:40162752-40162752	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.734G>A; p.R245H; 17:40162850-40162850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.734G>A; p.R245H; 17:40162850-40162850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1679A>G; p.H560R; 17:40167877-40167877	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>T; p.R338W; 17:40163707-40163707	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1973C>T; p.S658L; 17:40169331-40169331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1973C>T; p.S658L; 17:40169331-40169331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1973C>T; p.S658L; 17:40169331-40169331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1568C>T; p.S523L; 17:40167529-40167529	skin	malignant_melanoma	Substitution - Missense
c.1568C>T; p.S523L; 17:40167529-40167529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1965+3G>A; p.?; 17:40168420-40168420	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.414C>T; p.T138T; 17:40161869-40161869	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.822C>T; p.N274N; 17:40163517-40163517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.741T>C; p.A247A; 17:40162857-40162857	pancreas	carcinoma	Substitution - coding silent
c.1602C>T; p.P534P; 17:40167563-40167563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2066C>T; p.T689I; 17:40169424-40169424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1684G>A; p.D562N; 17:40167882-40167882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.29C>T; p.S10L; 17:40140577-40140577	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.29C>T; p.S10L; 17:40140577-40140577	urinary_tract; bladder	carcinoma	Substitution - Missense
c.29C>T; p.S10L; 17:40140577-40140577	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1302A>C; p.A434A; 17:40163997-40163997	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.749C>G; p.P250R; 17:40162865-40162865	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1624A>G; p.I542V; 17:40167585-40167585	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1198G>C; p.E400Q; 17:40163893-40163893	skin	malignant_melanoma	Substitution - Missense
c.2070C>T; p.I690I; 17:40169428-40169428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2070C>T; p.I690I; 17:40169428-40169428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2070C>T; p.I690I; 17:40169428-40169428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2106C>T; p.S702S; 17:40169615-40169615	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1694C>T; p.A565V; 17:40167892-40167892	skin	malignant_melanoma	Substitution - Missense
c.269C>T; p.S90L; 17:40141579-40141579	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]