Entrez Gene

Basic Information
Gene ID	25930
Name	PTPN23
Synonymous	protein tyrosine phosphatase, non-receptor type 23;PTPN23;protein tyrosine phosphatase, non-receptor type 23
Definition	his domain-containing protein tyrosine phosphatase\|protein tyrosine phosphatase TD14\|tyrosine-protein phosphatase non-receptor type 23
Position	3p21.3
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 0.21.

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.4057C>T; p.P1353S; 3:47411951-47411951	skin	malignant_melanoma	Substitution - Missense
c.1251C>T; p.I417I; 3:47408411-47408411	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2987delC; p.Y998fs*162; 3:47410785-47410785	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1819A>G; p.K607E; 3:47409438-47409438	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1282C>A; p.L428I; 3:47408442-47408442	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3545delG; p.G1183fs*37; 3:47411343-47411343	large_intestine; colon	NS	Deletion - Frameshift
c.4105C>T; p.R1369C; 3:47412125-47412125	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.988C>A; p.L330I; 3:47407569-47407569	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1580G>A; p.R527H; 3:47409025-47409025	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4196C>T; p.T1399M; 3:47412300-47412300	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1699C>T; p.R567W; 3:47409219-47409219	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.R642Q; 3:47409544-47409544	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2328delC; p.S778fs*25; 3:47410126-47410126	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.271G>A; p.A91T; 3:47404763-47404763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4106G>A; p.R1369H; 3:47412126-47412126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.130G>T; p.E44*; 3:47396188-47396188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4890C>T; p.L1630L; 3:47413164-47413164	skin	malignant_melanoma	Substitution - coding silent
c.234G>A; p.L78L; 3:47404726-47404726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4911A>G; p.*1637W; 3:47413185-47413185	stomach	carcinoma; adenocarcinoma	Nonstop extension
c.191G>A; p.G64D; 3:47404683-47404683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>C; p.A664P; 3:47409695-47409695	breast	carcinoma	Substitution - Missense
c.4376G>A; p.R1459H; 3:47412572-47412572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2799G>A; p.P933P; 3:47410597-47410597	thyroid	other; neoplasm	Substitution - coding silent
c.4194C>T; p.R1398R; 3:47412298-47412298	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4635G>A; p.P1545P; 3:47412909-47412909	thyroid	other; neoplasm	Substitution - coding silent
c.4635G>A; p.P1545P; 3:47412909-47412909	thyroid	other; neoplasm	Substitution - coding silent
c.4018G>C; p.D1340H; 3:47411912-47411912	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4635G>A; p.P1545P; 3:47412909-47412909	thyroid	other; neoplasm	Substitution - coding silent
c.3472C>T; p.R1158W; 3:47411270-47411270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1014G>T; p.L338F; 3:47407707-47407707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1615G>A; p.A539T; 3:47409060-47409060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4669C>T; p.Q1557*; 3:47412943-47412943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2338A>C; p.T780P; 3:47410136-47410136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3034delC; p.L1014fs*146; 3:47410832-47410832	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3034delC; p.L1014fs*146; 3:47410832-47410832	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3978C>T; p.T1326T; 3:47411872-47411872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3400C>T; p.P1134S; 3:47411198-47411198	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4561C>A; p.P1521T; 3:47412835-47412835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4061C>A; p.T1354N; 3:47411955-47411955	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2830G>A; p.A944T; 3:47410628-47410628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4126G>A; p.A1376T; 3:47412146-47412146	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2830G>A; p.A944T; 3:47410628-47410628	thyroid	other; neoplasm	Substitution - Missense
c.2830G>A; p.A944T; 3:47410628-47410628	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3343G>A; p.A1115T; 3:47411141-47411141	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2098C>T; p.R700C; 3:47409803-47409803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3550C>A; p.Q1184K; 3:47411348-47411348	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4105C>A; p.R1369S; 3:47412125-47412125	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.261C>T; p.G87G; 3:47404753-47404753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.531C>T; p.N177N; 3:47406031-47406031	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4375C>T; p.R1459C; 3:47412571-47412571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2363C>T; p.S788L; 3:47410161-47410161	breast	carcinoma	Substitution - Missense
c.3833A>C; p.H1278P; 3:47411631-47411631	breast	carcinoma	Substitution - Missense
c.1097A>C; p.H366P; 3:47407790-47407790	breast	carcinoma	Substitution - Missense
c.4844G>A; p.R1615Q; 3:47413118-47413118	thyroid	other; neoplasm	Substitution - Missense
c.3321C>T; p.P1107P; 3:47411119-47411119	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3547G>A; p.G1183S; 3:47411345-47411345	skin	malignant_melanoma	Substitution - Missense
c.3637A>G; p.I1213V; 3:47411435-47411435	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3637A>G; p.I1213V; 3:47411435-47411435	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4556G>A; p.S1519N; 3:47412830-47412830	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4655T>C; p.L1552P; 3:47412929-47412929	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.672C>T; p.P224P; 3:47406525-47406525	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.483C>A; p.F161L; 3:47405983-47405983	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3720G>T; p.K1240N; 3:47411518-47411518	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2784T>G; p.A928A; 3:47410582-47410582	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.3847T>G; p.S1283A; 3:47411645-47411645	breast	carcinoma	Substitution - Missense
c.2784T>G; p.A928A; 3:47410582-47410582	liver	carcinoma	Substitution - coding silent
c.4586T>C; p.L1529P; 3:47412860-47412860	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1873C>T; p.R625C; 3:47409492-47409492	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3485G>T; p.R1162L; 3:47411283-47411283	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1857C>T; p.N619N; 3:47409476-47409476	breast	carcinoma	Substitution - coding silent
c.456C>A; p.G152G; 3:47405956-47405956	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4635delG; p.L1548fs*36; 3:47412909-47412909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4635delG; p.L1548fs*36; 3:47412909-47412909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2395C>T; p.P799S; 3:47410193-47410193	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2395C>T; p.P799S; 3:47410193-47410193	skin	malignant_melanoma	Substitution - Missense
c.3971G>A; p.R1324H; 3:47411865-47411865	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4851C>T; p.T1617T; 3:47413125-47413125	skin	malignant_melanoma	Substitution - coding silent
c.448G>A; p.A150T; 3:47405948-47405948	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1223T>C; p.V408A; 3:47408383-47408383	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.448G>A; p.A150T; 3:47405948-47405948	stomach	adenocarcinoma	Substitution - Missense
c.604C>T; p.L202L; 3:47406382-47406382	skin	malignant_melanoma	Substitution - coding silent
c.96G>C; p.K32N; 3:47396154-47396154	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.401G>A; p.R134Q; 3:47405785-47405785	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1164G>T; p.E388D; 3:47407935-47407935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1530C>T; p.F510F; 3:47408975-47408975	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2244delC; p.P750fs*53; 3:47410042-47410042	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2078C>T; p.T693M; 3:47409783-47409783	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1479G>T; p.E493D; 3:47408924-47408924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4148C>T; p.P1383L; 3:47412168-47412168	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.447C>A; p.C149*; 3:47405947-47405947	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1215C>T; p.P405P; 3:47408375-47408375	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1215C>T; p.P405P; 3:47408375-47408375	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2166C>T; p.A722A; 3:47409964-47409964	breast	carcinoma	Substitution - coding silent
c.3009G>C; p.Q1003H; 3:47410807-47410807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4842G>A; p.L1614L; 3:47413116-47413116	thyroid	other; neoplasm	Substitution - coding silent
c.1672C>T; p.R558C; 3:47409192-47409192	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4437C>T; p.H1479H; 3:47412711-47412711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3298C>T; p.R1100C; 3:47411096-47411096	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3498G>A; p.E1166E; 3:47411296-47411296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3498G>A; p.E1166E; 3:47411296-47411296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1738C>G; p.L580V; 3:47409258-47409258	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2760G>A; p.T920T; 3:47410558-47410558	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3316C>A; p.P1106T; 3:47411114-47411114	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3522G>A; p.L1174L; 3:47411320-47411320	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1487G>A; p.R496Q; 3:47408932-47408932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3033_3034insC; p.L1014fs*68; 3:47410831-47410832	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3033_3034insC; p.L1014fs*68; 3:47410831-47410832	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3033_3034insC; p.L1014fs*68; 3:47410831-47410832	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3033_3034insC; p.L1014fs*68; 3:47410831-47410832	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3773C>T; p.P1258L; 3:47411571-47411571	skin; arm	malignant_melanoma	Substitution - Missense
c.3773C>T; p.P1258L; 3:47411571-47411571	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3773C>T; p.P1258L; 3:47411571-47411571	skin; arm	malignant_melanoma	Substitution - Missense
c.3886_3888delAAG; p.K1296delK; 3:47411684-47411686	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - In frame
c.3767_3768insC; p.L1259fs*14; 3:47411565-47411566	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.96G>A; p.K32K; 3:47396154-47396154	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2246C>T; p.P749L; 3:47410044-47410044	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1068C>A; p.I356I; 3:47407761-47407761	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.475G>A; p.E159K; 3:47405975-47405975	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2852T>A; p.I951N; 3:47410650-47410650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1579C>T; p.R527C; 3:47409024-47409024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2814C>A; p.F938L; 3:47410612-47410612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4465C>T; p.L1489F; 3:47412739-47412739	skin	malignant_melanoma	Substitution - Missense
c.4742C>T; p.A1581V; 3:47413016-47413016	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4298A>T; p.K1433M; 3:47412402-47412402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3902G>A; p.R1301H; 3:47411796-47411796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.937_939delAAG; p.K314delK; 3:47407518-47407520	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.512G>A; p.R171H; 3:47406012-47406012	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>A; p.D451N; 3:47408796-47408796	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4110C>T; p.F1370F; 3:47412130-47412130	skin	malignant_melanoma	Substitution - coding silent
c.2186G>A; p.R729H; 3:47409984-47409984	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3571C>T; p.L1191L; 3:47411369-47411369	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1074C>T; p.A358A; 3:47407767-47407767	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.891G>C; p.A297A; 3:47407335-47407335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.638A>G; p.Y213C; 3:47406491-47406491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4015C>T; p.R1339*; 3:47411909-47411909	skin; face	malignant_melanoma	Substitution - Nonsense
c.1544T>A; p.L515Q; 3:47408989-47408989	pancreas	carcinoma	Substitution - Missense
c.3857_3867del11; p.M1287fs*1; 3:47411655-47411665	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1276G>A; p.A426T; 3:47408436-47408436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3678C>G; p.V1226V; 3:47411476-47411476	skin	malignant_melanoma	Substitution - coding silent
c.1262T>G; p.L421R; 3:47408422-47408422	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4257_4282del26; p.E1420fs*19; 3:47412361-47412386	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Deletion - Frameshift
c.889G>A; p.A297T; 3:47407333-47407333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2111G>A; p.R704H; 3:47409816-47409816	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3610C>G; p.H1204D; 3:47411408-47411408	breast	carcinoma	Substitution - Missense
c.1237G>A; p.A413T; 3:47408397-47408397	skin	malignant_melanoma	Substitution - Missense
c.1987G>A; p.E663K; 3:47409692-47409692	breast	carcinoma	Substitution - Missense
c.4237G>T; p.E1413*; 3:47412341-47412341	breast	carcinoma	Substitution - Nonsense
c.2527G>A; p.V843M; 3:47410325-47410325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4148C>G; p.P1383R; 3:47412168-47412168	skin	malignant_melanoma	Substitution - Missense
c.3423G>T; p.L1141L; 3:47411221-47411221	prostate	carcinoma	Substitution - coding silent
c.4700C>T; p.A1567V; 3:47412974-47412974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2860C>T; p.Q954*; 3:47410658-47410658	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.896G>A; p.R299H; 3:47407340-47407340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.896G>A; p.R299H; 3:47407340-47407340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3979G>A; p.E1327K; 3:47411873-47411873	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1549C>T; p.R517C; 3:47408994-47408994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.324G>T; p.E108D; 3:47405041-47405041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1296C>T; p.P432P; 3:47408456-47408456	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1594_1595CC>TT; p.P532L; 3:47409039-47409040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1296C>T; p.P432P; 3:47408456-47408456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2525G>A; p.G842D; 3:47410323-47410323	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4635G>C; p.P1545P; 3:47412909-47412909	liver	carcinoma	Substitution - coding silent
c.3208C>T; p.R1070*; 3:47411006-47411006	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3405_3406GG>AA; p.G1136S; 3:47411203-47411204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2793C>A; p.P931P; 3:47410591-47410591	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3300delC; p.P1102fs*58; 3:47411098-47411098	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4647C>T; p.S1549S; 3:47412921-47412921	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2062G>A; p.A688T; 3:47409767-47409767	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4714C>G; p.P1572A; 3:47412988-47412988	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3709C>T; p.R1237C; 3:47411507-47411507	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2651T>A; p.V884E; 3:47410449-47410449	NS	malignant_melanoma	Substitution - Missense
c.2687C>A; p.A896D; 3:47410485-47410485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2687C>A; p.A896D; 3:47410485-47410485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2687C>A; p.A896D; 3:47410485-47410485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3709C>T; p.R1237C; 3:47411507-47411507	breast	carcinoma	Substitution - Missense
c.4726T>C; p.S1576P; 3:47413000-47413000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>A; p.E113K; 3:47405054-47405054	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.D317N; 3:47407530-47407530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1758C>T; p.I586I; 3:47409278-47409278	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1665_1676del12; p.K557_L560delKRIL; 3:47409185-47409196	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - In frame
c.462C>T; p.F154F; 3:47405962-47405962	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1992C>T; p.A664A; 3:47409697-47409697	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1609C>T; p.R537W; 3:47409054-47409054	breast	carcinoma	Substitution - Missense
c.216C>T; p.L72L; 3:47404708-47404708	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3967G>A; p.V1323I; 3:47411861-47411861	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1708C>T; p.R570C; 3:47409228-47409228	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2455C>T; p.P819S; 3:47410253-47410253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1825_1826delTA; p.Y609fs*1; 3:47409444-47409445	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3741C>T; p.S1247S; 3:47411539-47411539	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.891G>A; p.A297A; 3:47407335-47407335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4833G>A; p.G1611G; 3:47413107-47413107	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.115G>A; p.E39K; 3:47396173-47396173	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4146G>A; p.R1382R; 3:47412166-47412166	skin	malignant_melanoma	Substitution - coding silent
c.4714delC; p.S1574fs*10; 3:47412988-47412988	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4276C>T; p.R1426W; 3:47412380-47412380	prostate	carcinoma	Substitution - Missense
c.1938C>T; p.D646D; 3:47409557-47409557	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.789G>A; p.Q263Q; 3:47406732-47406732	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

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]