Entrez Gene

Basic Information
Gene ID	5934
Name	RBL2
Synonymous	retinoblastoma-like 2;RBL2;retinoblastoma-like 2
Definition	130 kDa retinoblastoma-associated protein\|PRB2\|RBR-2\|retinoblastoma-like protein 2\|retinoblastoma-related protein 2
Position	16q12.2
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.19.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1836T>G; p.N612K; 16:53465575-53465575	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1639C>G; p.P547A; 16:53464304-53464304	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2167C>T; p.P723S; 16:53470107-53470107	oesophagus	carcinoma	Substitution - Missense
c.1929C>T; p.P643P; 16:53467123-53467123	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1640C>A; p.P547H; 16:53464305-53464305	large_intestine; rectum	NS	Substitution - Missense
c.3419G>A; p.1140; 16:53490299-53490299	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2109A>G; p.L703L; 16:53470049-53470049	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3208C>A; p.R1070R; 16:53481794-53481794	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3269G>T; p.S1090I; 16:53490149-53490149	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1781T>G; p.L594*; 16:53465520-53465520	liver	carcinoma	Substitution - Nonsense
c.1431C>T; p.D477D; 16:53461825-53461825	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1781T>G; p.L594*; 16:53465520-53465520	liver	carcinoma	Substitution - Nonsense
c.3035T>C; p.I1012T; 16:53480720-53480720	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.519C>T; p.I173I; 16:53442805-53442805	skin	malignant_melanoma	Substitution - coding silent
c.504C>A; p.P168P; 16:53442790-53442790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3035T>C; p.I1012T; 16:53480720-53480720	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3069G>A; p.K1023K; 16:53480754-53480754	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2888G>C; p.R963T; 16:53480573-53480573	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3104C>A; p.S1035Y; 16:53481690-53481690	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.547C>A; p.R183S; 16:53442833-53442833	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.881A>C; p.K294T; 16:53453566-53453566	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2255A>G; p.N752S; 16:53470392-53470392	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3008G>T; p.G1003V; 16:53480693-53480693	pancreas	carcinoma	Substitution - Missense
c.829G>A; p.E277K; 16:53453514-53453514	pancreas	carcinoma	Substitution - Missense
c.383T>A; p.F128Y; 16:53442669-53442669	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1014T>C; p.Y338Y; 16:53454677-53454677	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2225C>T; p.T742M; 16:53470165-53470165	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1580C>T; p.A527V; 16:53464245-53464245	skin	malignant_melanoma	Substitution - Missense
c.1510G>T; p.E504*; 16:53462605-53462605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.506delT; p.Q171fs*47; 16:53442792-53442792	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2768G>A; p.R923Q; 16:53479218-53479218	skin	malignant_melanoma	Substitution - Missense
c.2434C>T; p.P812S; 16:53470571-53470571	skin	malignant_melanoma	Substitution - Missense
c.1360G>T; p.D454Y; 16:53461754-53461754	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.381A>T; p.E127D; 16:53442667-53442667	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1360G>T; p.D454Y; 16:53461754-53461754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3313C>A; p.L1105I; 16:53490193-53490193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3276A>G; p.I1092M; 16:53490156-53490156	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2224A>G; p.T742A; 16:53470164-53470164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>T; p.E127*; 16:53442665-53442665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1586A>G; p.H529R; 16:53464251-53464251	liver	carcinoma	Substitution - Missense
c.2694G>A; p.V898V; 16:53470913-53470913	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1586A>G; p.H529R; 16:53464251-53464251	liver	carcinoma	Substitution - Missense
c.3097C>A; p.P1033T; 16:53481683-53481683	skin	malignant_melanoma	Substitution - Missense
c.2258A>C; p.E753A; 16:53470395-53470395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2863G>T; p.E955*; 16:53479973-53479973	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099A>G; p.R367G; 16:53454762-53454762	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1099A>G; p.R367G; 16:53454762-53454762	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1099A>G; p.R367G; 16:53454762-53454762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1337A>C; p.Q446P; 16:53459608-53459608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3192A>G; p.E1064E; 16:53481778-53481778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3278G>A; p.R1093H; 16:53490158-53490158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>C; p.E60Q; 16:53434734-53434734	pancreas	carcinoma	Substitution - Missense
c.1100G>A; p.R367K; 16:53454763-53454763	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1888A>G; p.R630G; 16:53467082-53467082	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2089C>T; p.R697C; 16:53470029-53470029	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.379G>A; p.E127K; 16:53442665-53442665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379G>A; p.E127K; 16:53442665-53442665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.E127K; 16:53442665-53442665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379G>A; p.E127K; 16:53442665-53442665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379G>A; p.E127K; 16:53442665-53442665	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1614G>T; p.E538D; 16:53464279-53464279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.E127K; 16:53442665-53442665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2704G>A; p.V902I; 16:53479154-53479154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1275C>T; p.S425S; 16:53459546-53459546	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3026_3028delACA; p.N1011delN; 16:53480711-53480713	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.1342C>A; p.L448I; 16:53459613-53459613	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1414C>T; p.Q472*; 16:53461808-53461808	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.445A>T; p.T149S; 16:53442731-53442731	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1414C>T; p.Q472*; 16:53461808-53461808	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1948C>T; p.R650C; 16:53467142-53467142	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1948C>T; p.R650C; 16:53467142-53467142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2103G>A; p.Q701Q; 16:53470043-53470043	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1948C>T; p.R650C; 16:53467142-53467142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3329G>A; p.S1110N; 16:53490209-53490209	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1237A>C; p.S413R; 16:53459508-53459508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>T; p.R367M; 16:53454763-53454763	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1329A>G; p.K443K; 16:53459600-53459600	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3300A>C; p.K1100N; 16:53490180-53490180	liver	carcinoma	Substitution - Missense
c.1059T>A; p.F353L; 16:53454722-53454722	liver	carcinoma	Substitution - Missense
c.3389A>G; p.Q1130R; 16:53490269-53490269	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.R493C; 16:53462572-53462572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2504C>A; p.S835Y; 16:53470641-53470641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.R493C; 16:53462572-53462572	skin	malignant_melanoma	Substitution - Missense
c.1477C>T; p.R493C; 16:53462572-53462572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053G>C; p.E685Q; 16:53469993-53469993	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1536A>C; p.K512N; 16:53462631-53462631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.729T>C; p.C243C; 16:53451794-53451794	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3024C>G; p.F1008L; 16:53480709-53480709	urinary_tract; bladder	carcinoma	Substitution - Missense
c.809C>T; p.S270F; 16:53453494-53453494	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.503C>T; p.P168L; 16:53442789-53442789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.461G>A; p.R154K; 16:53442747-53442747	skin	malignant_melanoma	Substitution - Missense
c.503C>T; p.P168L; 16:53442789-53442789	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.503C>T; p.P168L; 16:53442789-53442789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3380G>A; p.R1127H; 16:53490260-53490260	ovary	other; neoplasm	Substitution - Missense
c.1884G>T; p.L628L; 16:53467078-53467078	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.593C>T; p.S198F; 16:53447062-53447062	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3143T>A; p.I1048K; 16:53481729-53481729	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.593C>T; p.S198F; 16:53447062-53447062	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1682T>C; p.L561P; 16:53464347-53464347	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.369G>C; p.Q123H; 16:53439144-53439144	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2708C>A; p.T903K; 16:53479158-53479158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2703+6T>C; p.?; 16:53470928-53470928	stomach	adenocarcinoma	Unknown
c.1927C>T; p.P643S; 16:53467121-53467121	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2766C>A; p.A922A; 16:53479216-53479216	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2405C>G; p.P802R; 16:53470542-53470542	thyroid	carcinoma	Substitution - Missense
c.898C>A; p.P300T; 16:53453583-53453583	skin	malignant_melanoma	Substitution - Missense
c.1101G>A; p.R367R; 16:53454764-53454764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3211G>T; p.E1071*; 16:53481797-53481797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1957A>G; p.T653A; 16:53467151-53467151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>A; p.R462K; 16:53461779-53461779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1522G>A; p.E508K; 16:53462617-53462617	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2590T>C; p.L864L; 16:53470809-53470809	thyroid	other; neoplasm	Substitution - coding silent
c.813delC; p.P273fs*14; 16:53453498-53453498	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.872A>C; p.K291T; 16:53453557-53453557	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2945G>A; p.S982N; 16:53480630-53480630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.55G>A; p.A19T; 16:53434611-53434611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.629A>G; p.Y210C; 16:53447098-53447098	thyroid	other; neoplasm	Substitution - Missense
c.1837G>T; p.E613*; 16:53465576-53465576	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1938G>T; p.V646V; 16:53467132-53467132	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.196G>A; p.A66T; 16:53434752-53434752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2279T>G; p.F760C; 16:53470416-53470416	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.260T>C; p.L87S; 16:53439035-53439035	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2078G>A; p.G693E; 16:53470018-53470018	liver	carcinoma	Substitution - Missense
c.2078G>A; p.G693E; 16:53470018-53470018	liver	carcinoma	Substitution - Missense
c.2528T>C; p.V843A; 16:53470747-53470747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2783G>A; p.R928K; 16:53479893-53479893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.899C>G; p.P300R; 16:53453584-53453584	skin	malignant_melanoma	Substitution - Missense
c.2176A>G; p.T726A; 16:53470116-53470116	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2143G>A; p.E715K; 16:53470083-53470083	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1727_1750del24; p.D576_K584>E; 16:53465466-53465489	lung	carcinoma; small_cell_carcinoma	Complex - deletion inframe
c.2250T>C; p.I750I; 16:53470387-53470387	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2966G>A; p.R989H; 16:53480651-53480651	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1617C>G; p.V539V; 16:53464282-53464282	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1641T>C; p.P547P; 16:53464306-53464306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2855C>G; p.S952C; 16:53479965-53479965	ovary	other; neoplasm	Substitution - Missense
c.813C>T; p.D271D; 16:53453498-53453498	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.522T>G; p.F174L; 16:53442808-53442808	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1681C>T; p.L561F; 16:53464346-53464346	skin; trunk	malignant_melanoma	Substitution - Missense
c.547C>T; p.R183C; 16:53442833-53442833	breast	carcinoma	Substitution - Missense
c.520T>C; p.F174L; 16:53442806-53442806	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2100delA; p.Q701fs*3; 16:53470040-53470040	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1092T>G; p.T364T; 16:53454755-53454755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1532delA; p.R513fs*2; 16:53462627-53462627	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.574C>T; p.R192*; 16:53447043-53447043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1393G>T; p.E465*; 16:53461787-53461787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1393G>T; p.E465*; 16:53461787-53461787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.574C>T; p.R192*; 16:53447043-53447043	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.574C>T; p.R192*; 16:53447043-53447043	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1393G>T; p.E465*; 16:53461787-53461787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2975G>T; p.G992V; 16:53480660-53480660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1478G>A; p.R493H; 16:53462573-53462573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3282A>C; p.T1094T; 16:53490162-53490162	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1423C>G; p.Q475E; 16:53461817-53461817	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2128C>T; p.Q710*; 16:53470068-53470068	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3337C>T; p.P1113S; 16:53490217-53490217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.788C>T; p.A263V; 16:53453473-53453473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3139C>T; p.R1047*; 16:53481725-53481725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.503C>A; p.P168H; 16:53442789-53442789	liver	carcinoma	Substitution - Missense
c.503C>A; p.P168H; 16:53442789-53442789	liver	carcinoma	Substitution - Missense
c.1386A>T; p.R462S; 16:53461780-53461780	prostate	carcinoma	Substitution - Missense
c.3277C>T; p.R1093C; 16:53490157-53490157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1139delG; p.V381fs*3; 16:53454802-53454802	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2360G>C; p.G787A; 16:53470497-53470497	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2467G>A; p.V823I; 16:53470604-53470604	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2467G>A; p.V823I; 16:53470604-53470604	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.403T>C; p.W135R; 16:53442689-53442689	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2740C>T; p.R914C; 16:53479190-53479190	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.513G>A; p.Q171Q; 16:53442799-53442799	skin	malignant_melanoma	Substitution - coding silent
c.2329A>T; p.I777F; 16:53470466-53470466	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.872_873insG; p.I293fs*11; 16:53453557-53453558	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.453A>G; p.R151R; 16:53442739-53442739	liver	carcinoma	Substitution - coding silent
c.1764G>A; p.Q588Q; 16:53465503-53465503	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.2432C>T; p.S811F; 16:53470569-53470569	skin	malignant_melanoma	Substitution - Missense
c.1248G>A; p.V416V; 16:53459519-53459519	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.738T>C; p.R246R; 16:53451803-53451803	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.920delA; p.K309fs*14; 16:53453605-53453605	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.920delA; p.K309fs*14; 16:53453605-53453605	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3107C>T; p.P1036L; 16:53481693-53481693	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1097C>T; p.S366L; 16:53454760-53454760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3120A>T; p.V1040V; 16:53481706-53481706	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2511G>A; p.S837S; 16:53470648-53470648	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2284G>C; p.V762L; 16:53470421-53470421	urinary_tract; bladder	carcinoma	Substitution - Missense
c.658G>T; p.D220Y; 16:53451723-53451723	skin	malignant_melanoma	Substitution - Missense
c.2914A>G; p.S972G; 16:53480599-53480599	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.496T>A; p.Y166N; 16:53442782-53442782	liver	carcinoma	Substitution - Missense
c.496T>A; p.Y166N; 16:53442782-53442782	liver	carcinoma	Substitution - Missense
c.535G>A; p.E179K; 16:53442821-53442821	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2090G>A; p.R697H; 16:53470030-53470030	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.509T>C; p.F170S; 16:53442795-53442795	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.47C>T; p.P16L; 16:53434603-53434603	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>T; p.E478*; 16:53461826-53461826	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.536A>C; p.E179A; 16:53442822-53442822	liver	carcinoma	Substitution - Missense
c.1111G>A; p.A371T; 16:53454774-53454774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.536A>C; p.E179A; 16:53442822-53442822	liver	carcinoma	Substitution - Missense
c.3361A>C; p.N1121H; 16:53490241-53490241	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]