General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 6196 |
Name | RPS6KA2 |
Synonymous | ribosomal protein S6 kinase, 90kDa, polypeptide 2;RPS6KA2;ribosomal protein S6 kinase, 90kDa, polypeptide 2 |
Definition | 90 kDa ribosomal protein S6 kinase 2|MAP kinase-activated protein kinase 1c|MAPK-activated protein kinase 1c|MAPKAP kinase 1c|MAPKAPK-1c|RSK-3|S6K-alpha-2|p90-RSK 2|p90RSK2|ribosomal S6 kinase 3|ribosomal protein S6 kinase 90kDa polypeptide 2|ribosomal pr |
Position | 6q27 |
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 | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.14. |
The copy number variations for various cancers | Top |
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 |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1665C>T; p.F555F; 6:166423334-166423334 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1665C>T; p.F555F; 6:166423334-166423334 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1237G>A; p.D413N; 6:166448819-166448819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.132C>T; p.S44S; 6:166538752-166538752 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.837G>A; p.P279P; 6:166488903-166488903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.45T>C; p.S15S; 6:166626975-166626975 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.720C>T; p.A240A; 6:166498535-166498535 |
liver | carcinoma | Substitution - coding silent |
c.720C>T; p.A240A; 6:166498535-166498535 |
liver | carcinoma | Substitution - coding silent |
c.837G>A; p.P279P; 6:166488903-166488903 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.720C>T; p.A240A; 6:166498535-166498535 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1956G>C; p.M652I; 6:166413914-166413914 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.45T>C; p.S15S; 6:166626975-166626975 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1005C>T; p.F335F; 6:166459519-166459519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1852A>G; p.T618A; 6:166418311-166418311 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005C>T; p.F335F; 6:166459519-166459519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.521A>T; p.H174L; 6:166504551-166504551 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.162A>G; p.A54A; 6:166538722-166538722 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1688delC; p.A563fs*7; 6:166423311-166423311 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.162A>G; p.A54A; 6:166538722-166538722 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2120A>G; p.Q707R; 6:166412844-166412844 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.402C>T; p.L134L; 6:166508260-166508260 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1953G>T; p.K651N; 6:166413917-166413917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.802A>G; p.M268V; 6:166490687-166490687 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1310C>T; p.T437I; 6:166448746-166448746 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.567C>A; p.N189K; 6:166500924-166500924 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1103A>G; p.N368S; 6:166451206-166451206 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>A; p.P361T; 6:166451228-166451228 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2148A>G; p.S716S; 6:166412816-166412816 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2148A>G; p.S716S; 6:166412816-166412816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2148A>G; p.S716S; 6:166412816-166412816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2148A>G; p.S716S; 6:166412816-166412816 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2148A>G; p.S716S; 6:166412816-166412816 |
thyroid | other; neoplasm | Substitution - coding silent |
c.684C>T; p.P228P; 6:166498571-166498571 |
skin | malignant_melanoma | Substitution - coding silent |
c.378T>A; p.Y126*; 6:166510278-166510278 |
pancreas | carcinoma | Substitution - Nonsense |
c.710C>T; p.T237M; 6:166498545-166498545 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1361C>T; p.S454L; 6:166432462-166432462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2037C>T; p.S679S; 6:166413833-166413833 |
NS | malignant_melanoma | Substitution - coding silent |
c.2037C>T; p.S679S; 6:166413833-166413833 |
NS | malignant_melanoma | Substitution - coding silent |
c.1666G>A; p.G556S; 6:166423333-166423333 |
prostate | carcinoma | Substitution - Missense |
c.2054G>T; p.R685L; 6:166413816-166413816 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1108C>T; p.H370Y; 6:166451201-166451201 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1989G>A; p.A663A; 6:166413881-166413881 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.509T>A; p.L170*; 6:166504563-166504563 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1468C>T; p.R490C; 6:166430566-166430566 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312G>A; p.D438N; 6:166448744-166448744 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739C>T; p.P580L; 6:166423260-166423260 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739C>T; p.P580L; 6:166423260-166423260 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1631C>T; p.S544L; 6:166423368-166423368 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.265G>A; p.A89T; 6:166531265-166531265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.352C>T; p.H118Y; 6:166510304-166510304 |
skin | malignant_melanoma | Substitution - Missense |
c.736G>A; p.G246S; 6:166498519-166498519 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.352C>T; p.H118Y; 6:166510304-166510304 |
skin | malignant_melanoma | Substitution - Missense |
c.1174C>T; p.L392L; 6:166451135-166451135 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.314G>A; p.R105K; 6:166510342-166510342 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1339G>T; p.D447Y; 6:166432484-166432484 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1027G>A; p.E343K; 6:166459497-166459497 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1499G>A; p.R500Q; 6:166430535-166430535 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1829C>T; p.P610L; 6:166418334-166418334 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1063C>T; p.R355W; 6:166459461-166459461 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1063C>T; p.R355W; 6:166459461-166459461 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.178G>C; p.E60Q; 6:166538706-166538706 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1876A>T; p.I626F; 6:166418287-166418287 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.267C>T; p.A89A; 6:166531263-166531263 |
skin | malignant_melanoma | Substitution - coding silent |
c.103G>A; p.E35K; 6:166538781-166538781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.941G>A; p.R314H; 6:166469872-166469872 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>A; p.S244S; 6:166498523-166498523 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.338T>C; p.L113S; 6:166510318-166510318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.39C>A; p.F13L; 6:166626981-166626981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.286G>A; p.A96T; 6:166531244-166531244 |
skin | malignant_melanoma | Substitution - Missense |
c.1945G>A; p.V649M; 6:166413925-166413925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.389C>T; p.T130M; 6:166508273-166508273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1448A>G; p.Y483C; 6:166430586-166430586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.940C>T; p.R314C; 6:166469873-166469873 |
meninges | meningioma | Substitution - Missense |
c.1690G>A; p.G564R; 6:166423309-166423309 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1772C>T; p.A591V; 6:166419930-166419930 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.648G>A; p.A216A; 6:166498607-166498607 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2187G>C; p.T729T; 6:166412777-166412777 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2187G>C; p.T729T; 6:166412777-166412777 |
thyroid | other; neoplasm | Substitution - coding silent |
c.636C>T; p.H212H; 6:166498619-166498619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1050C>T; p.P350P; 6:166459474-166459474 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.317C>A; p.S106*; 6:166510339-166510339 |
breast | carcinoma | Substitution - Nonsense |
c.1490G>A; p.R497H; 6:166430544-166430544 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.470C>T; p.T157M; 6:166504602-166504602 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1482C>T; p.L494L; 6:166430552-166430552 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1741G>A; p.E581K; 6:166423258-166423258 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2053C>T; p.R685*; 6:166413817-166413817 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2197C>T; p.L733L; 6:166412767-166412767 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2197C>T; p.L733L; 6:166412767-166412767 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2197C>T; p.L733L; 6:166412767-166412767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2197C>T; p.L733L; 6:166412767-166412767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317C>T; p.T439T; 6:166448739-166448739 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317C>T; p.T439T; 6:166448739-166448739 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.466T>C; p.F156L; 6:166504606-166504606 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1696G>A; p.G566R; 6:166423303-166423303 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1031A>G; p.D344G; 6:166459493-166459493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1801T>G; p.L601V; 6:166419901-166419901 |
breast | carcinoma | Substitution - Missense |
c.460-1G>T; p.?; 6:166504613-166504613 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1396C>T; p.H466Y; 6:166432427-166432427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1685G>A; p.R562H; 6:166423314-166423314 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1840G>A; p.G614R; 6:166418323-166418323 |
skin | malignant_melanoma | Substitution - Missense |
c.931G>A; p.E311K; 6:166469882-166469882 |
skin | malignant_melanoma | Substitution - Missense |
c.931G>A; p.E311K; 6:166469882-166469882 |
skin | malignant_melanoma | Substitution - Missense |
c.931G>A; p.E311K; 6:166469882-166469882 |
skin | malignant_melanoma | Substitution - Missense |
c.931G>A; p.E311K; 6:166469882-166469882 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.E115K; 6:166510313-166510313 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1769C>T; p.A590V; 6:166419933-166419933 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1753C>T; p.R585C; 6:166419949-166419949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.611G>A; p.G204D; 6:166498644-166498644 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1769C>T; p.A590V; 6:166419933-166419933 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.611G>A; p.G204D; 6:166498644-166498644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1686C>T; p.R562R; 6:166423313-166423313 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1686C>T; p.R562R; 6:166423313-166423313 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.287C>A; p.A96D; 6:166531243-166531243 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775G>A; p.C592Y; 6:166419927-166419927 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.697C>T; p.R233W; 6:166498558-166498558 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1849G>A; p.D617N; 6:166418314-166418314 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1917C>A; p.D639E; 6:166418246-166418246 |
breast | carcinoma | Substitution - Missense |
c.1395G>T; p.Q465H; 6:166432428-166432428 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.109G>A; p.V37I; 6:166538775-166538775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1515G>A; p.S505S; 6:166430519-166430519 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1515G>A; p.S505S; 6:166430519-166430519 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.103G>C; p.E35Q; 6:166538781-166538781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1577A>G; p.Q526R; 6:166430457-166430457 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.462C>G; p.V154V; 6:166504610-166504610 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1104C>T; p.N368N; 6:166451205-166451205 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1581+1G>A; p.?; 6:166430452-166430452 |
ovary | carcinoma; mucinous_carcinoma | Unknown |
c.1581+1G>A; p.?; 6:166430452-166430452 |
ovary | carcinoma; mucinous_carcinoma | Unknown |
c.373C>A; p.H125N; 6:166510283-166510283 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.226G>A; p.V76M; 6:166531304-166531304 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.37T>A; p.F13I; 6:166626983-166626983 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1825A>G; p.T609A; 6:166418338-166418338 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087G>A; p.V363I; 6:166451222-166451222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087G>A; p.V363I; 6:166451222-166451222 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1798C>T; p.L600L; 6:166419904-166419904 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1897C>T; p.L633F; 6:166418266-166418266 |
skin | malignant_melanoma | Substitution - Missense |
c.1236C>T; p.T412T; 6:166448820-166448820 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1514C>T; p.S505L; 6:166430520-166430520 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1206+1G>A; p.?; 6:166451102-166451102 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.982C>T; p.R328W; 6:166459542-166459542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1940A>G; p.D647G; 6:166413930-166413930 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1684C>T; p.R562C; 6:166423315-166423315 |
oesophagus | carcinoma | Substitution - Missense |
c.1516G>C; p.E506Q; 6:166430518-166430518 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2077-1G>A; p.?; 6:166412888-166412888 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1854C>T; p.T618T; 6:166418309-166418309 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.700C>T; p.R234*; 6:166498555-166498555 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.426_427GG>TT; p.G143*; 6:166508235-166508236 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2064G>T; p.V688V; 6:166413806-166413806 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1064G>A; p.R355Q; 6:166459460-166459460 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1647C>T; p.S549S; 6:166423352-166423352 |
liver | carcinoma | Substitution - coding silent |
c.1960C>T; p.H654Y; 6:166413910-166413910 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.45T>A; p.S15S; 6:166626975-166626975 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1280C>G; p.S427*; 6:166448776-166448776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1280C>G; p.S427*; 6:166448776-166448776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1280C>G; p.S427*; 6:166448776-166448776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1280C>G; p.S427*; 6:166448776-166448776 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1763A>G; p.Y588C; 6:166419939-166419939 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1985C>T; p.T662M; 6:166413885-166413885 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1569C>A; p.L523L; 6:166430465-166430465 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1695C>T; p.N565N; 6:166423304-166423304 |
pancreas | carcinoma | Substitution - coding silent |
c.1279T>C; p.S427P; 6:166448777-166448777 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1722G>A; p.T574T; 6:166423277-166423277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.301C>T; p.R101W; 6:166510355-166510355 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627G>A; p.E543K; 6:166423372-166423372 |
skin | malignant_melanoma | Substitution - Missense |
c.665C>T; p.T222M; 6:166498590-166498590 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.665C>T; p.T222M; 6:166498590-166498590 |
breast | carcinoma | Substitution - Missense |
c.552T>G; p.D184E; 6:166504520-166504520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1464G>A; p.L488L; 6:166430570-166430570 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1823T>G; p.F608C; 6:166418340-166418340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1919C>T; p.S640L; 6:166418244-166418244 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1280C>A; p.S427*; 6:166448776-166448776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.563_566+35del39; p.?; 6:166504471-166504509 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.1591C>T; p.R531*; 6:166423408-166423408 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2195G>A; p.R732Q; 6:166412769-166412769 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2195G>A; p.R732Q; 6:166412769-166412769 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.222C>T; p.F74F; 6:166531308-166531308 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.947C>T; p.P316L; 6:166469866-166469866 |
skin | malignant_melanoma | Substitution - Missense |
c.568A>G; p.I190V; 6:166500923-166500923 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1773G>A; p.A591A; 6:166419929-166419929 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1688C>T; p.A563V; 6:166423311-166423311 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1688C>T; p.A563V; 6:166423311-166423311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1095G>A; p.P365P; 6:166451214-166451214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1258G>A; p.D420N; 6:166448798-166448798 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.133C>T; p.H45Y; 6:166538751-166538751 |
skin | malignant_melanoma | Substitution - Missense |
c.983G>A; p.R328Q; 6:166459541-166459541 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.831G>C; p.G277G; 6:166488909-166488909 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1871C>T; p.A624V; 6:166418292-166418292 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.861G>A; p.Q287Q; 6:166488879-166488879 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2186C>T; p.T729M; 6:166412778-166412778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.678G>T; p.M226I; 6:166498577-166498577 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1636A>T; p.S546C; 6:166423363-166423363 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1444G>A; p.V482M; 6:166430590-166430590 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.354C>T; p.H118H; 6:166510302-166510302 |
skin | malignant_melanoma | Substitution - coding silent |
c.1963G>A; p.V655M; 6:166413907-166413907 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.468C>G; p.F156L; 6:166504604-166504604 |
breast | carcinoma | Substitution - Missense |
c.156G>A; p.E52E; 6:166538728-166538728 |
breast | carcinoma | Substitution - coding silent |
c.495G>T; p.L165L; 6:166504577-166504577 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.765G>A; p.G255G; 6:166490724-166490724 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2128C>T; p.R710W; 6:166412836-166412836 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2128C>T; p.R710W; 6:166412836-166412836 |
liver | carcinoma | Substitution - Missense |
c.2128C>T; p.R710W; 6:166412836-166412836 |
liver | carcinoma | Substitution - Missense |
c.2054G>A; p.R685Q; 6:166413816-166413816 |
pancreas | carcinoma | Substitution - Missense |
c.100-1G>T; p.?; 6:166538785-166538785 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.520C>A; p.H174N; 6:166504552-166504552 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.959C>T; p.T320I; 6:166469854-166469854 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.207C>A; p.S69S; 6:166538677-166538677 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.711G>A; p.T237T; 6:166498544-166498544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.148G>A; p.G50S; 6:166538736-166538736 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2192C>T; p.T731M; 6:166412772-166412772 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.259C>T; p.L87F; 6:166531271-166531271 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1225A>G; p.I409V; 6:166448831-166448831 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.259C>T; p.L87F; 6:166531271-166531271 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1760G>T; p.G587V; 6:166419942-166419942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1281A>G; p.S427S; 6:166448775-166448775 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1910delA; p.N637fs*25; 6:166418253-166418253 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1938+6T>G; p.?; 6:166418219-166418219 |
liver | carcinoma | Unknown |
c.1216G>A; p.G406R; 6:166448840-166448840 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |