Entrez Gene

Basic Information
Gene ID	9901
Name	SRGAP3
Synonymous	SLIT-ROBO Rho GTPase activating protein 3;SRGAP3;SLIT-ROBO Rho GTPase activating protein 3
Definition	SLIT-ROBO Rho GTPase activating protein 2\|SLIT-ROBO Rho GTPase-activating protein 3\|WAVE-associated Rac GTPase activating protein\|mental disorder-associated GAP\|rho GTPase-activating protein 14
Position	3p25.3
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 0.25.

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.378C>T; p.V126V; 3:9104725-9104725	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3110C>A; p.T1037N; 3:8985709-8985709	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.781G>A; p.D261N; 3:9060251-9060251	skin	malignant_melanoma	Substitution - Missense
c.2382C>A; p.P794P; 3:8994369-8994369	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2127G>T; p.M709I; 3:9013328-9013328	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1849C>T; p.Q617*; 3:9013807-9013807	skin	malignant_melanoma	Substitution - Nonsense
c.2492C>T; p.S831F; 3:8992972-8992972	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.69G>T; p.E23D; 3:9124916-9124916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.849C>G; p.T283T; 3:9058425-9058425	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.164G>T; p.R55L; 3:9124821-9124821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.118G>A; p.E40K; 3:9124867-9124867	skin	malignant_melanoma	Substitution - Missense
c.1848C>T; p.I616I; 3:9013808-9013808	skin	malignant_melanoma	Substitution - coding silent
c.600G>A; p.M200I; 3:9064468-9064468	skin	malignant_melanoma	Substitution - Missense
c.320G>T; p.R107L; 3:9104783-9104783	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1848C>T; p.I616I; 3:9013808-9013808	skin	malignant_melanoma	Substitution - coding silent
c.1118A>T; p.N373I; 3:9056240-9056240	ovary	other; neoplasm	Substitution - Missense
c.320G>T; p.R107L; 3:9104783-9104783	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>T; p.E159*; 3:9080036-9080036	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.236G>A; p.R79H; 3:9124749-9124749	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>T; p.E159*; 3:9080036-9080036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.888C>T; p.H296H; 3:9058386-9058386	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2808G>A; p.S936S; 3:8990590-8990590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2452G>A; p.E818K; 3:8993012-8993012	skin	malignant_melanoma	Substitution - Missense
c.1690C>T; p.L564F; 3:9015720-9015720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2675G>A; p.C892Y; 3:8990723-8990723	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2227+9G>T; p.?; 3:9010299-9010299	liver	carcinoma	Unknown
c.1925C>T; p.S642F; 3:9013530-9013530	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2749T>C; p.F917L; 3:8990649-8990649	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999A>C; p.N1000T; 3:8985820-8985820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2362G>A; p.G788S; 3:8994389-8994389	skin	malignant_melanoma	Substitution - Missense
c.1441C>T; p.P481S; 3:9032748-9032748	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.753C>G; p.N251K; 3:9060279-9060279	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1300G>A; p.E434K; 3:9053050-9053050	skin	malignant_melanoma	Substitution - Missense
c.2050A>C; p.K684Q; 3:9013405-9013405	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.380G>A; p.R127H; 3:9104723-9104723	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1936G>A; p.D646N; 3:9013519-9013519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>A; p.R127H; 3:9104723-9104723	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.380G>A; p.R127H; 3:9104723-9104723	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1230C>T; p.S410S; 3:9053120-9053120	skin	malignant_melanoma	Substitution - coding silent
c.2393T>A; p.I798K; 3:8994358-8994358	skin	malignant_melanoma	Substitution - Missense
c.1230C>T; p.S410S; 3:9053120-9053120	skin	malignant_melanoma	Substitution - coding silent
c.376G>A; p.V126I; 3:9104727-9104727	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.376G>A; p.V126I; 3:9104727-9104727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2526C>T; p.I842I; 3:8992938-8992938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1637C>T; p.S546F; 3:9025302-9025302	skin	malignant_melanoma	Substitution - Missense
c.2548delG; p.V850fs*1; 3:8992916-8992916	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2548delG; p.V850fs*1; 3:8992916-8992916	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3157C>T; p.R1053C; 3:8985662-8985662	skin	malignant_melanoma	Substitution - Missense
c.2548delG; p.V850fs*1; 3:8992916-8992916	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2548delG; p.V850fs*1; 3:8992916-8992916	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2548delG; p.V850fs*1; 3:8992916-8992916	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1675A>T; p.R559*; 3:9025264-9025264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.413T>G; p.L138R; 3:9104690-9104690	skin	malignant_melanoma	Substitution - Missense
c.1495T>A; p.Y499N; 3:9032694-9032694	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2054C>T; p.T685I; 3:9013401-9013401	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2950G>T; p.V984F; 3:8985869-8985869	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2596C>T; p.R866C; 3:8990802-8990802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>A; p.A777T; 3:8994422-8994422	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1950G>A; p.M650I; 3:9013505-9013505	pancreas	carcinoma	Substitution - Missense
c.2364C>T; p.G788G; 3:8994387-8994387	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2734C>T; p.R912W; 3:8990664-8990664	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.773A>G; p.Y258C; 3:9060259-9060259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2442G>T; p.K814N; 3:8993022-8993022	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1667C>T; p.S556F; 3:9025272-9025272	skin; neck	malignant_melanoma	Substitution - Missense
c.1072C>T; p.R358C; 3:9056286-9056286	prostate	carcinoma	Substitution - Missense
c.1667C>T; p.S556F; 3:9025272-9025272	skin	malignant_melanoma	Substitution - Missense
c.1667C>T; p.S556F; 3:9025272-9025272	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.382C>T; p.L128F; 3:9104721-9104721	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1667C>T; p.S556F; 3:9025272-9025272	skin	malignant_melanoma	Substitution - Missense
c.1667C>T; p.S556F; 3:9025272-9025272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.382C>T; p.L128F; 3:9104721-9104721	skin	malignant_melanoma	Substitution - Missense
c.3076C>T; p.R1026C; 3:8985743-8985743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2604C>T; p.S868S; 3:8990794-8990794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381G>A; p.D461N; 3:9047418-9047418	skin	malignant_melanoma	Substitution - Missense
c.1286G>A; p.R429K; 3:9053064-9053064	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.672G>A; p.K224K; 3:9064396-9064396	skin	malignant_melanoma	Substitution - coding silent
c.3063C>T; p.P1021P; 3:8985756-8985756	skin	malignant_melanoma	Substitution - coding silent
c.2548_2549insG; p.V850fs*10; 3:8992915-8992916	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2095G>A; p.E699K; 3:9013360-9013360	skin	malignant_melanoma	Substitution - Missense
c.2095G>A; p.E699K; 3:9013360-9013360	skin	malignant_melanoma	Substitution - Missense
c.2128G>A; p.A710T; 3:9013327-9013327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.755C>T; p.A252V; 3:9060277-9060277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.755C>T; p.A252V; 3:9060277-9060277	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1926C>T; p.S642S; 3:9013529-9013529	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1408+10C>T; p.?; 3:9047381-9047381	liver	carcinoma	Unknown
c.1408+10C>T; p.?; 3:9047381-9047381	liver	carcinoma	Unknown
c.1040C>T; p.A347V; 3:9056318-9056318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.884G>A; p.R295H; 3:9058390-9058390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3245C>T; p.T1082M; 3:8985574-8985574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3245C>T; p.T1082M; 3:8985574-8985574	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.258C>T; p.F86F; 3:9124727-9124727	skin	malignant_melanoma	Substitution - coding silent
c.96C>T; p.F32F; 3:9124889-9124889	skin	malignant_melanoma	Substitution - coding silent
c.1824C>T; p.N608N; 3:9013832-9013832	breast	carcinoma	Substitution - coding silent
c.417C>G; p.F139L; 3:9104686-9104686	prostate	carcinoma	Substitution - Missense
c.487-1G>T; p.?; 3:9064582-9064582	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.67+9C>A; p.?; 3:9248876-9248876	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.1698C>T; p.D566D; 3:9015712-9015712	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1698C>T; p.D566D; 3:9015712-9015712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2516C>T; p.T839M; 3:8992948-8992948	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.632G>A; p.R211H; 3:9064436-9064436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1698C>T; p.D566D; 3:9015712-9015712	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.197G>T; p.S66I; 3:9124788-9124788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2529G>A; p.S843S; 3:8992935-8992935	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1999C>A; p.P667T; 3:9013456-9013456	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.260A>G; p.K87R; 3:9124725-9124725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.314A>G; p.Q105R; 3:9104789-9104789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2960C>T; p.A987V; 3:8985859-8985859	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1259T>C; p.M420T; 3:9053091-9053091	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1359C>T; p.I453I; 3:9047440-9047440	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2383C>A; p.H795N; 3:8994368-8994368	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.107A>C; p.E36A; 3:9124878-9124878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3289G>T; p.G1097C; 3:8985530-8985530	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2747C>T; p.T916M; 3:8990651-8990651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.686A>G; p.Y229C; 3:9060346-9060346	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.612G>T; p.R204R; 3:9064456-9064456	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2929G>A; p.E977K; 3:8985890-8985890	skin	malignant_melanoma	Substitution - Missense
c.825C>T; p.A275A; 3:9058449-9058449	skin; arm	malignant_melanoma	Substitution - coding silent
c.2044G>A; p.V682I; 3:9013411-9013411	bone; femur	chondrosarcoma	Substitution - Missense
c.1402G>T; p.G468C; 3:9047397-9047397	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2554G>A; p.G852S; 3:8992910-8992910	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2326C>T; p.R776C; 3:8994425-8994425	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1486C>T; p.L496F; 3:9032703-9032703	skin	malignant_melanoma	Substitution - Missense
c.1345G>T; p.G449C; 3:9047454-9047454	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2328C>T; p.R776R; 3:8994423-8994423	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2164G>A; p.E722K; 3:9010371-9010371	skin	malignant_melanoma	Substitution - Missense
c.1225G>A; p.E409K; 3:9053125-9053125	skin	malignant_melanoma	Substitution - Missense
c.2751C>T; p.F917F; 3:8990647-8990647	skin	malignant_melanoma	Substitution - coding silent
c.2707C>T; p.R903W; 3:8990691-8990691	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1866C>T; p.T622T; 3:9013790-9013790	skin	malignant_melanoma	Substitution - coding silent
c.1558C>T; p.P520S; 3:9026977-9026977	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2483A>G; p.K828R; 3:8992981-8992981	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma	Substitution - Missense
c.2363G>A; p.G788D; 3:8994388-8994388	skin	malignant_melanoma	Substitution - Missense
c.2707C>T; p.R903W; 3:8990691-8990691	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.451G>A; p.E151K; 3:9080060-9080060	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.451G>A; p.E151K; 3:9080060-9080060	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2862C>T; p.S954S; 3:8990536-8990536	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2893G>A; p.E965K; 3:8985926-8985926	ovary	other; neoplasm	Substitution - Missense
c.1706A>T; p.N569I; 3:9015704-9015704	skin	malignant_melanoma	Substitution - Missense
c.3079C>T; p.R1027C; 3:8985740-8985740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2498delA; p.N833fs*18; 3:8992966-8992966	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.420A>C; p.K140N; 3:9104683-9104683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2955G>C; p.K985N; 3:8985864-8985864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2209C>T; p.P737S; 3:9010326-9010326	breast	carcinoma	Substitution - Missense
c.1815A>G; p.K605K; 3:9013841-9013841	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3080G>T; p.R1027L; 3:8985739-8985739	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2500G>A; p.D834N; 3:8992964-8992964	skin	malignant_melanoma	Substitution - Missense
c.3025C>A; p.P1009T; 3:8985794-8985794	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2500G>A; p.D834N; 3:8992964-8992964	skin	malignant_melanoma	Substitution - Missense
c.2500G>A; p.D834N; 3:8992964-8992964	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.124C>T; p.R42*; 3:9124861-9124861	pancreas	carcinoma	Substitution - Nonsense
c.124C>T; p.R42*; 3:9124861-9124861	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.85G>T; p.V29L; 3:9124900-9124900	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.547G>A; p.E183K; 3:9064521-9064521	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.547G>A; p.E183K; 3:9064521-9064521	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1380C>T; p.H460H; 3:9047419-9047419	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1690C>G; p.L564V; 3:9015720-9015720	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2277C>T; p.S759S; 3:8994474-8994474	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1426G>A; p.G476S; 3:9038073-9038073	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2513C>A; p.P838H; 3:8992951-8992951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3293C>T; p.T1098I; 3:8985526-8985526	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3293C>T; p.T1098I; 3:8985526-8985526	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.486+4A>C; p.?; 3:9080021-9080021	breast	carcinoma	Unknown
c.2116G>A; p.E706K; 3:9013339-9013339	skin	malignant_melanoma	Substitution - Missense
c.2068C>T; p.H690Y; 3:9013387-9013387	skin; scalp	malignant_melanoma	Substitution - Missense
c.2910G>A; p.T970T; 3:8985909-8985909	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1870C>T; p.P624S; 3:9013786-9013786	skin	malignant_melanoma	Substitution - Missense
c.150G>T; p.Q50H; 3:9124835-9124835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1975T>G; p.F659V; 3:9013480-9013480	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2221G>A; p.D741N; 3:9010314-9010314	skin	malignant_melanoma	Substitution - Missense
c.2659C>T; p.P887S; 3:8990739-8990739	skin	malignant_melanoma	Substitution - Missense
c.2948C>T; p.T983M; 3:8985871-8985871	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2784G>C; p.K928N; 3:8990614-8990614	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2528C>T; p.S843L; 3:8992936-8992936	skin	malignant_melanoma	Substitution - Missense
c.3142G>T; p.A1048S; 3:8985677-8985677	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.I136I; 3:9104695-9104695	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.331C>T; p.R111*; 3:9104772-9104772	thyroid	other; neoplasm	Substitution - Nonsense
c.3030C>T; p.A1010A; 3:8985789-8985789	skin	malignant_melanoma	Substitution - coding silent
c.3257A>G; p.K1086R; 3:8985562-8985562	breast	carcinoma	Substitution - Missense
c.3083G>A; p.S1028N; 3:8985736-8985736	skin	malignant_melanoma	Substitution - Missense
c.2744C>T; p.A915V; 3:8990654-8990654	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.517G>C; p.E173Q; 3:9064551-9064551	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.517G>C; p.E173Q; 3:9064551-9064551	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1447C>T; p.L483F; 3:9032742-9032742	skin	malignant_melanoma	Substitution - Missense
c.996C>T; p.F332F; 3:9058278-9058278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2939G>A; p.R980K; 3:8985880-8985880	skin	malignant_melanoma	Substitution - Missense
c.247G>A; p.E83K; 3:9124738-9124738	skin	malignant_melanoma	Substitution - Missense
c.2927G>A; p.R976Q; 3:8985892-8985892	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3011C>T; p.P1004L; 3:8985808-8985808	skin	malignant_melanoma	Substitution - Missense
c.2919C>T; p.H973H; 3:8985900-8985900	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3099C>T; p.T1033T; 3:8985720-8985720	prostate	carcinoma	Substitution - coding silent
c.2870C>T; p.A957V; 3:8990528-8990528	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.846G>A; p.R282R; 3:9058428-9058428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2383C>T; p.H795Y; 3:8994368-8994368	skin	malignant_melanoma	Substitution - Missense
c.673-2A>T; p.?; 3:9060361-9060361	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.2071G>T; p.E691*; 3:9013384-9013384	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2071G>T; p.E691*; 3:9013384-9013384	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2291_2292CC>TT; p.S764F; 3:8994459-8994460	skin	malignant_melanoma	Substitution - Missense
c.1985C>T; p.T662I; 3:9013470-9013470	skin	malignant_melanoma	Substitution - Missense
c.2745G>A; p.A915A; 3:8990653-8990653	skin	malignant_melanoma	Substitution - coding silent
c.217C>T; p.R73C; 3:9124768-9124768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2281C>T; p.R761C; 3:8994470-8994470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1342A>G; p.N448D; 3:9047457-9047457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2928G>A; p.R976R; 3:8985891-8985891	skin	malignant_melanoma	Substitution - coding silent
c.1711C>T; p.R571*; 3:9015699-9015699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2281C>T; p.R761C; 3:8994470-8994470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.454G>C; p.E152Q; 3:9080057-9080057	skin	malignant_melanoma	Substitution - Missense
c.3114C>T; p.T1038T; 3:8985705-8985705	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1699G>A; p.D567N; 3:9015711-9015711	skin	malignant_melanoma	Substitution - Missense
c.2597G>A; p.R866H; 3:8990801-8990801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1699G>A; p.D567N; 3:9015711-9015711	skin	malignant_melanoma	Substitution - Missense
c.1150A>T; p.M384L; 3:9053200-9053200	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.957G>A; p.M319I; 3:9058317-9058317	skin	malignant_melanoma	Substitution - Missense
c.2796C>T; p.S932S; 3:8990602-8990602	skin	malignant_melanoma	Substitution - coding silent
c.3021G>A; p.S1007S; 3:8985798-8985798	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.739C>G; p.L247V; 3:9060293-9060293	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.578A>G; p.N193S; 3:9064490-9064490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2546G>A; p.G849E; 3:8992918-8992918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1867C>A; p.L623I; 3:9013789-9013789	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.158T>C; p.F53S; 3:9124827-9124827	skin	malignant_melanoma	Substitution - Missense
c.2506C>T; p.Q836*; 3:8992958-8992958	skin	malignant_melanoma	Substitution - Nonsense
c.571C>T; p.Q191*; 3:9064497-9064497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1231G>A; p.V411I; 3:9053119-9053119	prostate	adenoma	Substitution - Missense
c.2712delG; p.R905fs*33; 3:8990686-8990686	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.889G>A; p.E297K; 3:9058385-9058385	skin	malignant_melanoma	Substitution - Missense
c.1073G>A; p.R358H; 3:9056285-9056285	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406Q; 3:9053133-9053133	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2007G>A; p.G669G; 3:9013448-9013448	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2549T>G; p.V850G; 3:8992915-8992915	breast	carcinoma	Substitution - Missense
c.718C>T; p.R240W; 3:9060314-9060314	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.122C>T; p.S41L; 3:9124863-9124863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1844A>G; p.Q615R; 3:9013812-9013812	skin	malignant_melanoma	Substitution - Missense
c.1938C>A; p.D646E; 3:9013517-9013517	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2002G>A; p.D668N; 3:9013453-9013453	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2002G>A; p.D668N; 3:9013453-9013453	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.821A>G; p.H274R; 3:9058453-9058453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2309C>T; p.S770L; 3:8994442-8994442	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235C>T; p.R79C; 3:9124750-9124750	skin	malignant_melanoma	Substitution - Missense
c.2344T>A; p.W782R; 3:8994407-8994407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1132A>G; p.K378E; 3:9053218-9053218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3148G>A; p.A1050T; 3:8985671-8985671	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2476G>A; p.D826N; 3:8992988-8992988	breast	carcinoma	Substitution - Missense
c.1777C>T; p.P593S; 3:9015633-9015633	skin	malignant_melanoma	Substitution - Missense
c.1777C>T; p.P593S; 3:9015633-9015633	skin	malignant_melanoma	Substitution - Missense
c.2520G>A; p.E840E; 3:8992944-8992944	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3049G>T; p.V1017F; 3:8985770-8985770	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2752G>A; p.G918R; 3:8990646-8990646	pancreas	carcinoma	Substitution - Missense
c.2380C>A; p.P794T; 3:8994371-8994371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.309G>A; p.L103L; 3:9104794-9104794	kidney	other; neoplasm	Substitution - coding silent
c.123G>A; p.S41S; 3:9124862-9124862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1581C>T; p.I527I; 3:9026954-9026954	skin	malignant_melanoma	Substitution - coding silent
c.1698C>A; p.D566E; 3:9015712-9015712	skin	malignant_melanoma	Substitution - Missense
c.1581C>T; p.I527I; 3:9026954-9026954	skin	malignant_melanoma	Substitution - coding silent
c.2629C>T; p.R877W; 3:8990769-8990769	ovary	carcinoma	Substitution - Missense
c.2082C>T; p.F694F; 3:9013373-9013373	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2872G>A; p.E958K; 3:8990526-8990526	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.2674T>G; p.C892G; 3:8990724-8990724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2333C>T; p.S778L; 3:8994418-8994418	skin	malignant_melanoma	Substitution - Missense
c.1753C>T; p.R585*; 3:9015657-9015657	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.567G>C; p.E189D; 3:9064501-9064501	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2333C>T; p.S778L; 3:8994418-8994418	skin	malignant_melanoma	Substitution - Missense
c.2334G>A; p.S778S; 3:8994417-8994417	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1753C>T; p.R585*; 3:9015657-9015657	skin	malignant_melanoma	Substitution - Nonsense
c.567G>C; p.E189D; 3:9064501-9064501	urinary_tract; bladder	carcinoma	Substitution - Missense
c.125G>T; p.R42L; 3:9124860-9124860	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.925C>A; p.L309M; 3:9058349-9058349	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.592C>T; p.L198F; 3:9064476-9064476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.102T>C; p.C34C; 3:9124883-9124883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1553C>A; p.A518D; 3:9026982-9026982	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1560G>A; p.P520P; 3:9026975-9026975	breast	carcinoma	Substitution - coding silent
c.1887G>C; p.V629V; 3:9013769-9013769	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1002C>T; p.F334F; 3:9058272-9058272	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.841T>G; p.F281V; 3:9058433-9058433	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1570G>A; p.E524K; 3:9026965-9026965	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2610C>T; p.G870G; 3:8990788-8990788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1464G>T; p.Q488H; 3:9032725-9032725	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3020C>T; p.S1007L; 3:8985799-8985799	pancreas	carcinoma	Substitution - Missense
c.3020C>T; p.S1007L; 3:8985799-8985799	skin	malignant_melanoma	Substitution - Missense
c.2468C>A; p.P823Q; 3:8992996-8992996	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2682C>A; p.S894R; 3:8990716-8990716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.227C>T; p.S76F; 3:9124758-9124758	skin	malignant_melanoma	Substitution - Missense
c.1778C>T; p.P593L; 3:9015632-9015632	skin	malignant_melanoma	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]