Entrez Gene

Basic Information
Gene ID	9365
Name	KL
Synonymous	klotho;KL;klotho
Definition	-
Position	13q12
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 0.09.

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.2172G>A; p.G724G; 13:33061251-33061251	skin	malignant_melanoma	Substitution - coding silent
c.1150A>G; p.M384V; 13:33054097-33054097	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949C>G; p.Q317E; 13:33053896-33053896	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1712A>G; p.Y571C; 13:33060791-33060791	breast	carcinoma	Substitution - Missense
c.905G>A; p.W302*; 13:33053852-33053852	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2755G>A; p.D919N; 13:33063902-33063902	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1408T>C; p.Y470H; 13:33055124-33055124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1383G>A; p.M461I; 13:33055099-33055099	skin	malignant_melanoma	Substitution - Missense
c.913C>T; p.P305S; 13:33053860-33053860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.754C>T; p.R252C; 13:33017194-33017194	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2803T>A; p.F935I; 13:33063950-33063950	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1559C>T; p.P520L; 13:33055275-33055275	skin	malignant_melanoma	Substitution - Missense
c.1848G>A; p.L616L; 13:33060927-33060927	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2861C>T; p.P954L; 13:33064008-33064008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2861C>T; p.P954L; 13:33064008-33064008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.290C>T; p.P97L; 13:33016730-33016730	skin	malignant_melanoma	Substitution - Missense
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2461C>G; p.P821A; 13:33061540-33061540	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1936G>A; p.G646R; 13:33061015-33061015	skin	malignant_melanoma	Substitution - Missense
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1280A>G; p.D427G; 13:33054227-33054227	ovary	other; neoplasm	Substitution - Missense
c.2922T>C; p.S974S; 13:33064069-33064069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2376T>C; p.D792D; 13:33061455-33061455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1519C>T; p.P507S; 13:33055235-33055235	skin	malignant_melanoma	Substitution - Missense
c.2862G>A; p.P954P; 13:33064009-33064009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1824G>C; p.Q608H; 13:33060903-33060903	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1293G>T; p.M431I; 13:33054240-33054240	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.684C>T; p.G228G; 13:33017124-33017124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.956C>T; p.S319F; 13:33053903-33053903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1420C>A; p.R474S; 13:33055136-33055136	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1810C>T; p.P604S; 13:33060889-33060889	skin	malignant_melanoma	Substitution - Missense
c.2747C>T; p.S916L; 13:33063894-33063894	skin	malignant_melanoma	Substitution - Missense
c.2747C>T; p.S916L; 13:33063894-33063894	skin	malignant_melanoma	Substitution - Missense
c.2840T>G; p.I947S; 13:33063987-33063987	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2582T>C; p.F861S; 13:33061661-33061661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.490G>C; p.V164L; 13:33016930-33016930	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2367C>T; p.F789F; 13:33061446-33061446	skin	malignant_melanoma	Substitution - coding silent
c.499C>T; p.R167C; 13:33016939-33016939	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2211T>C; p.P737P; 13:33061290-33061290	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.2583C>T; p.F861F; 13:33061662-33061662	skin	malignant_melanoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1811C>A; p.P604H; 13:33060890-33060890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1010A>C; p.Y337S; 13:33053957-33053957	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.249C>T; p.H83H; 13:33016689-33016689	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2078G>A; p.R693K; 13:33061157-33061157	skin	malignant_melanoma	Substitution - Missense
c.2378delA; p.K795fs*2; 13:33061457-33061457	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2378delA; p.K795fs*2; 13:33061457-33061457	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1603G>C; p.D535H; 13:33060682-33060682	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.E339G; 13:33053963-33053963	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1701G>A; p.K567K; 13:33060780-33060780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2993C>G; p.S998C; 13:33064140-33064140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2993C>G; p.S998C; 13:33064140-33064140	breast	carcinoma	Substitution - Missense
c.2377G>A; p.E793K; 13:33061456-33061456	skin	malignant_melanoma	Substitution - Missense
c.1858C>T; p.R620C; 13:33060937-33060937	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2079G>T; p.R693S; 13:33061158-33061158	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2374G>A; p.D792N; 13:33061453-33061453	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2436C>T; p.I812I; 13:33061515-33061515	skin	malignant_melanoma	Substitution - coding silent
c.2436C>T; p.I812I; 13:33061515-33061515	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1722C>T; p.D574D; 13:33060801-33060801	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1068_1069insA; p.F359fs*7; 13:33054015-33054016	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.455C>T; p.S152L; 13:33016895-33016895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2829T>G; p.H943Q; 13:33063976-33063976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.455C>T; p.S152L; 13:33016895-33016895	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1780C>T; p.R594C; 13:33060859-33060859	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1759G>A; p.E587K; 13:33060838-33060838	skin	malignant_melanoma	Substitution - Missense
c.1809C>T; p.L603L; 13:33060888-33060888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2701+1G>T; p.?; 13:33061781-33061781	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.2727T>C; p.L909L; 13:33063874-33063874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2642C>G; p.A881G; 13:33061721-33061721	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2759G>A; p.R920H; 13:33063906-33063906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2759G>A; p.R920H; 13:33063906-33063906	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2059A>G; p.M687V; 13:33061138-33061138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2759G>A; p.R920H; 13:33063906-33063906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.930C>T; p.D310D; 13:33053877-33053877	skin	malignant_melanoma	Substitution - coding silent
c.618C>T; p.G206G; 13:33017058-33017058	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2558G>A; p.R853H; 13:33061637-33061637	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2048T>G; p.L683R; 13:33061127-33061127	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2458G>C; p.D820H; 13:33061537-33061537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.772C>T; p.R258W; 13:33017212-33017212	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1873G>A; p.E625K; 13:33060952-33060952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1873G>A; p.E625K; 13:33060952-33060952	skin	malignant_melanoma	Substitution - Missense
c.2615C>T; p.S872F; 13:33061694-33061694	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2987C>A; p.S996Y; 13:33064134-33064134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2987C>A; p.S996Y; 13:33064134-33064134	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2987C>A; p.S996Y; 13:33064134-33064134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2019C>T; p.C673C; 13:33061098-33061098	skin	malignant_melanoma	Substitution - coding silent
c.403G>A; p.D135N; 13:33016843-33016843	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1433A>C; p.Y478S; 13:33055149-33055149	ovary	other; neoplasm	Substitution - Missense
c.1185G>C; p.R395S; 13:33054132-33054132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.449C>T; p.S150F; 13:33016889-33016889	kidney	other; neoplasm	Substitution - Missense
c.606C>T; p.D202D; 13:33017046-33017046	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2040C>T; p.H680H; 13:33061119-33061119	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2922delT; p.H977fs*10; 13:33064069-33064069	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1265C>A; p.T422N; 13:33054212-33054212	ovary	other; neoplasm	Substitution - Missense
c.1467G>T; p.L489F; 13:33055183-33055183	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2009C>T; p.A670V; 13:33061088-33061088	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2631C>T; p.D877D; 13:33061710-33061710	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.342G>A; p.P114P; 13:33016782-33016782	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2882G>C; p.R961T; 13:33064029-33064029	breast	carcinoma	Substitution - Missense
c.1272G>A; p.K424K; 13:33054219-33054219	skin	malignant_melanoma	Substitution - coding silent
c.2011C>T; p.R671*; 13:33061090-33061090	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2011C>T; p.R671*; 13:33061090-33061090	skin	malignant_melanoma	Substitution - Nonsense
c.2535G>A; p.V845V; 13:33061614-33061614	skin	malignant_melanoma	Substitution - coding silent
c.1735C>A; p.Q579K; 13:33060814-33060814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2535G>A; p.V845V; 13:33061614-33061614	skin	malignant_melanoma	Substitution - coding silent
c.205G>T; p.V69L; 13:33016645-33016645	thyroid	other; neoplasm	Substitution - Missense
c.1152G>A; p.M384I; 13:33054099-33054099	urinary_tract; bladder	carcinoma	Substitution - Missense
c.917G>A; p.R306Q; 13:33053864-33053864	skin	malignant_melanoma	Substitution - Missense
c.917G>A; p.R306Q; 13:33053864-33053864	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2146G>A; p.E716K; 13:33061225-33061225	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2133G>T; p.W711C; 13:33061212-33061212	skin	malignant_melanoma	Substitution - Missense
c.2302G>A; p.G768R; 13:33061381-33061381	breast	carcinoma	Substitution - Missense
c.2951C>T; p.A984V; 13:33064098-33064098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1826C>T; p.S609F; 13:33060905-33060905	skin	malignant_melanoma	Substitution - Missense
c.307G>A; p.D103N; 13:33016747-33016747	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3032A>G; p.Y1011C; 13:33064179-33064179	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3032A>G; p.Y1011C; 13:33064179-33064179	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1709C>T; p.S570F; 13:33060788-33060788	skin	malignant_melanoma	Substitution - Missense
c.1709C>T; p.S570F; 13:33060788-33060788	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2865C>T; p.G955G; 13:33064012-33064012	skin	malignant_melanoma	Substitution - coding silent
c.1709C>T; p.S570F; 13:33060788-33060788	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476G>T; p.D826Y; 13:33061555-33061555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1929G>A; p.P643P; 13:33061008-33061008	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>A; p.F464L; 13:33055108-33055108	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1392C>A; p.F464L; 13:33055108-33055108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1830G>A; p.Q610Q; 13:33060909-33060909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1932C>T; p.N644N; 13:33061011-33061011	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.520C>T; p.R174W; 13:33016960-33016960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2786G>A; p.R929H; 13:33063933-33063933	central_nervous_system; brain	glioma	Substitution - Missense
c.771C>G; p.I257M; 13:33017211-33017211	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.739G>A; p.G247S; 13:33017179-33017179	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2455G>T; p.E819*; 13:33061534-33061534	skin	malignant_melanoma	Substitution - Nonsense
c.1291A>G; p.M431V; 13:33054238-33054238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3026G>A; p.R1009K; 13:33064173-33064173	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2789A>G; p.Y930C; 13:33063936-33063936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1085G>A; p.G362E; 13:33054032-33054032	skin	malignant_melanoma	Substitution - Missense
c.2342G>T; p.R781I; 13:33061421-33061421	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.G228S; 13:33017122-33017122	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1311C>A; p.F437L; 13:33054258-33054258	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1311C>A; p.F437L; 13:33054258-33054258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1872C>T; p.S624S; 13:33060951-33060951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2896G>T; p.E966*; 13:33064043-33064043	breast	carcinoma	Substitution - Nonsense
c.1099T>G; p.F367V; 13:33054046-33054046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1013C>T; p.P338L; 13:33053960-33053960	skin	malignant_melanoma	Substitution - Missense
c.1919C>A; p.P640H; 13:33060998-33060998	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2800C>T; p.Q934*; 13:33063947-33063947	skin	malignant_melanoma	Substitution - Nonsense
c.1012C>T; p.P338S; 13:33053959-33053959	skin	malignant_melanoma	Substitution - Missense
c.2161G>T; p.A721S; 13:33061240-33061240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1950C>T; p.L650L; 13:33061029-33061029	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2353C>A; p.L785I; 13:33061432-33061432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1950C>T; p.L650L; 13:33061029-33061029	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1950C>T; p.L650L; 13:33061029-33061029	skin	malignant_melanoma	Substitution - coding silent
c.2342G>A; p.R781K; 13:33061421-33061421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2447C>T; p.S816L; 13:33061526-33061526	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1846C>A; p.L616M; 13:33060925-33060925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>A; p.G372E; 13:33054062-33054062	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.987A>G; p.K329K; 13:33053934-33053934	skin	malignant_melanoma	Substitution - coding silent
c.1603G>A; p.D535N; 13:33060682-33060682	skin	malignant_melanoma	Substitution - Missense
c.765C>T; p.P255P; 13:33017205-33017205	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.927C>T; p.T309T; 13:33053874-33053874	skin	malignant_melanoma	Substitution - coding silent
c.1412G>T; p.S471I; 13:33055128-33055128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2166G>T; p.Q722H; 13:33061245-33061245	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1412G>T; p.S471I; 13:33055128-33055128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2219C>A; p.P740H; 13:33061298-33061298	skin	malignant_melanoma	Substitution - Missense
c.2600C>T; p.P867L; 13:33061679-33061679	skin	malignant_melanoma	Substitution - Missense
c.1788C>T; p.S596S; 13:33060867-33060867	skin	malignant_melanoma	Substitution - coding silent
c.1388G>A; p.G463D; 13:33055104-33055104	skin	malignant_melanoma	Substitution - Missense
c.1788C>T; p.S596S; 13:33060867-33060867	skin	malignant_melanoma	Substitution - coding silent
c.1444C>T; p.L482L; 13:33055160-33055160	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2658G>A; p.L886L; 13:33061737-33061737	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1843A>G; p.I615V; 13:33060922-33060922	breast	carcinoma	Substitution - Missense
c.2901C>A; p.F967L; 13:33064048-33064048	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2227C>T; p.Q743*; 13:33061306-33061306	skin	malignant_melanoma	Substitution - Nonsense
c.658G>A; p.A220T; 13:33017098-33017098	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1210G>A; p.E404K; 13:33054157-33054157	skin	malignant_melanoma	Substitution - Missense
c.2683A>G; p.I895V; 13:33061762-33061762	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1360G>A; p.G454R; 13:33055076-33055076	pancreas	carcinoma	Substitution - Missense
c.2058G>A; p.T686T; 13:33061137-33061137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1558C>T; p.P520S; 13:33055274-33055274	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2488_2489GT>AA; p.V830K; 13:33061567-33061568	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin	malignant_melanoma	Substitution - Missense
c.1540C>T; p.P514S; 13:33055256-33055256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin	malignant_melanoma	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin	malignant_melanoma	Substitution - Missense
c.414G>A; p.A138A; 13:33016854-33016854	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1574G>T; p.W525L; 13:33055290-33055290	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1669C>T; p.L557F; 13:33060748-33060748	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1574G>T; p.W525L; 13:33055290-33055290	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.1669C>T; p.L557F; 13:33060748-33060748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.414G>A; p.A138A; 13:33016854-33016854	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155G>A; p.K385K; 13:33054102-33054102	thyroid	other; neoplasm	Substitution - coding silent
c.1377C>T; p.S459S; 13:33055093-33055093	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.2311C>T; p.P771S; 13:33061390-33061390	skin	malignant_melanoma	Substitution - Missense
c.358G>A; p.A120T; 13:33016798-33016798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2994C>A; p.S998S; 13:33064141-33064141	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.555G>C; p.V185V; 13:33016995-33016995	central_nervous_system; brain	glioma	Substitution - coding silent
c.1937G>A; p.G646E; 13:33061016-33061016	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1272G>C; p.K424N; 13:33054219-33054219	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1937G>A; p.G646E; 13:33061016-33061016	skin	malignant_melanoma	Substitution - Missense
c.1093G>A; p.D365N; 13:33054040-33054040	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.690G>T; p.Q230H; 13:33017130-33017130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2891C>A; p.P964Q; 13:33064038-33064038	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2012G>A; p.R671Q; 13:33061091-33061091	skin	malignant_melanoma	Substitution - Missense
c.2068C>T; p.P690S; 13:33061147-33061147	skin	malignant_melanoma	Substitution - Missense
c.1303delA; p.K436fs*7; 13:33054250-33054250	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1029T>A; p.N343K; 13:33053976-33053976	skin	malignant_melanoma	Substitution - Missense
c.2936G>A; p.R979Q; 13:33064083-33064083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.664C>T; p.L222F; 13:33017104-33017104	skin	malignant_melanoma	Substitution - Missense
c.2837A>C; p.K946T; 13:33063984-33063984	skin	malignant_melanoma	Substitution - Missense
c.1276G>A; p.D426N; 13:33054223-33054223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1986T>A; p.T662T; 13:33061065-33061065	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1240G>A; p.E414K; 13:33054187-33054187	skin	malignant_melanoma	Substitution - Missense
c.1123T>G; p.L375V; 13:33054070-33054070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1240G>A; p.E414K; 13:33054187-33054187	skin; scalp	malignant_melanoma	Substitution - Missense
c.1240G>A; p.E414K; 13:33054187-33054187	skin	malignant_melanoma	Substitution - Missense
c.1240G>A; p.E414K; 13:33054187-33054187	skin	malignant_melanoma	Substitution - Missense
c.1670T>C; p.L557P; 13:33060749-33060749	skin	malignant_melanoma	Substitution - Missense
c.273T>C; p.D91D; 13:33016713-33016713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.273T>C; p.D91D; 13:33016713-33016713	thyroid	other; neoplasm	Substitution - coding silent
c.273T>C; p.D91D; 13:33016713-33016713	thyroid	other; neoplasm	Substitution - coding silent
c.363C>T; p.T121T; 13:33016803-33016803	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2186C>T; p.A729V; 13:33061265-33061265	skin	malignant_melanoma	Substitution - Missense
c.1647G>A; p.W549*; 13:33060726-33060726	skin; upper_arm	malignant_melanoma	Substitution - Nonsense
c.2764G>A; p.A922T; 13:33063911-33063911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1768G>A; p.V590I; 13:33060847-33060847	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1757A>G; p.Q586R; 13:33060836-33060836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>G; p.R175G; 13:33016963-33016963	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1054T>G; p.F352V; 13:33054001-33054001	thyroid	other; neoplasm	Substitution - Missense
c.935G>A; p.S312N; 13:33053882-33053882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1298A>G; p.Y433C; 13:33054245-33054245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.R210C; 13:33017068-33017068	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1954G>A; p.A652T; 13:33061033-33061033	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1787C>T; p.S596F; 13:33060866-33060866	skin	malignant_melanoma	Substitution - Missense
c.2758C>A; p.R920S; 13:33063905-33063905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2955C>T; p.F985F; 13:33064102-33064102	skin	malignant_melanoma	Substitution - coding silent
c.1887C>T; p.V629V; 13:33060966-33060966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2620G>A; p.G874R; 13:33061699-33061699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1576G>A; p.G526R; 13:33055292-33055292	skin	malignant_melanoma	Substitution - Missense
c.614G>A; p.G205D; 13:33017054-33017054	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]