General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 54778 |
Name | RNF111 |
Synonymous | ring finger protein 111;RNF111;ring finger protein 111 |
Definition | Arkadia|E3 ubiquitin-protein ligase Arkadia |
Position | 15q21 |
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 0.26. |
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.1548C>T; p.H516H; 15:59066945-59066945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2172T>C; p.L724L; 15:59081159-59081159 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.27C>G; p.N9K; 15:59030849-59030849 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.27C>G; p.N9K; 15:59030849-59030849 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2683C>T; p.R895C; 15:59091098-59091098 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.27C>G; p.N9K; 15:59030849-59030849 |
thyroid | other; neoplasm | Substitution - Missense |
c.1716T>C; p.S572S; 15:59075983-59075983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2683C>T; p.R895C; 15:59091098-59091098 |
skin | malignant_melanoma | Substitution - Missense |
c.2088A>T; p.I696I; 15:59081075-59081075 |
skin | malignant_melanoma | Substitution - coding silent |
c.2072C>T; p.A691V; 15:59081059-59081059 |
skin | malignant_melanoma | Substitution - Missense |
c.2882T>G; p.V961G; 15:59094821-59094821 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2034G>A; p.P678P; 15:59081021-59081021 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2034G>A; p.P678P; 15:59081021-59081021 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1835G>A; p.S612N; 15:59076102-59076102 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2034G>A; p.P678P; 15:59081021-59081021 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1960A>G; p.T654A; 15:59080947-59080947 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2582G>A; p.R861H; 15:59089698-59089698 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1575T>C; p.A525A; 15:59066972-59066972 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.37A>G; p.T13A; 15:59030859-59030859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1655A>C; p.N552T; 15:59067052-59067052 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1027C>T; p.H343Y; 15:59055701-59055701 |
breast | carcinoma | Substitution - Missense |
c.121G>C; p.E41Q; 15:59030943-59030943 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1575T>A; p.A525A; 15:59066972-59066972 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2062C>T; p.P688S; 15:59081049-59081049 |
skin | malignant_melanoma | Substitution - Missense |
c.128T>C; p.I43T; 15:59030950-59030950 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2581C>T; p.R861C; 15:59089697-59089697 |
pancreas | carcinoma | Substitution - Missense |
c.837T>C; p.V279V; 15:59031659-59031659 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2653C>T; p.H885Y; 15:59091068-59091068 |
skin | malignant_melanoma | Substitution - Missense |
c.578C>T; p.S193L; 15:59031400-59031400 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094G>A; p.R365H; 15:59055768-59055768 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1056C>A; p.S352S; 15:59055730-59055730 |
prostate | adenoma | Substitution - coding silent |
c.1056C>A; p.S352S; 15:59055730-59055730 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.284G>A; p.R95H; 15:59031106-59031106 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1056C>A; p.S352S; 15:59055730-59055730 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.662C>T; p.S221F; 15:59031484-59031484 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1978C>T; p.Q660*; 15:59080965-59080965 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1165G>T; p.E389*; 15:59055839-59055839 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1868C>T; p.S623L; 15:59076135-59076135 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1993C>T; p.P665S; 15:59080980-59080980 |
skin | malignant_melanoma | Substitution - Missense |
c.790G>T; p.E264*; 15:59031612-59031612 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.352C>T; p.L118L; 15:59031174-59031174 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.795C>A; p.S265S; 15:59031617-59031617 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2313delC; p.P773fs*44; 15:59084144-59084144 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.2313delC; p.P773fs*44; 15:59084144-59084144 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.2313delC; p.P773fs*44; 15:59084144-59084144 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2313delC; p.P773fs*44; 15:59084144-59084144 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1007+2T>C; p.?; 15:59052433-59052433 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2313delC; p.P773fs*44; 15:59084144-59084144 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2313delC; p.P773fs*44; 15:59084144-59084144 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1557C>T; p.H519H; 15:59066954-59066954 |
skin | malignant_melanoma | Substitution - coding silent |
c.1352G>A; p.G451D; 15:59058536-59058536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.772G>A; p.E258K; 15:59031594-59031594 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1545_1546insCAC; p.H520_T521insH; 15:59066942-59066943 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.1612C>G; p.P538A; 15:59067009-59067009 |
pancreas | carcinoma | Substitution - Missense |
c.2047T>C; p.Y683H; 15:59081034-59081034 |
skin | malignant_melanoma | Substitution - Missense |
c.948A>C; p.E316D; 15:59052372-59052372 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1987G>C; p.A663P; 15:59080974-59080974 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2173C>T; p.P725S; 15:59081160-59081160 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.259A>C; p.K87Q; 15:59031081-59031081 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088G>A; p.R363Q; 15:59055762-59055762 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2740-5C>A; p.?; 15:59092532-59092532 |
liver | carcinoma | Unknown |
c.1679A>T; p.H560L; 15:59067076-59067076 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2740-5C>A; p.?; 15:59092532-59092532 |
liver | carcinoma | Unknown |
c.1881G>A; p.A627A; 15:59076148-59076148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.883A>G; p.S295G; 15:59052307-59052307 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2297+2T>C; p.?; 15:59081286-59081286 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.683_684delAA; p.K229fs*23; 15:59031505-59031506 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.256G>T; p.E86*; 15:59031078-59031078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.683delA; p.E230fs*4; 15:59031505-59031505 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2605G>C; p.G869R; 15:59089721-59089721 |
skin | malignant_melanoma | Substitution - Missense |
c.1849T>C; p.S617P; 15:59076116-59076116 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1337_1351del15; p.N447_G451delNSTTG; 15:59058521-59058535 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - In frame |
c.1337_1351del15; p.N447_G451delNSTTG; 15:59058521-59058535 |
breast | carcinoma | Deletion - In frame |
c.1358C>T; p.S453F; 15:59058542-59058542 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.711G>T; p.K237N; 15:59031533-59031533 |
breast | carcinoma | Substitution - Missense |
c.1813C>T; p.Q605*; 15:59076080-59076080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2801G>T; p.C934F; 15:59092598-59092598 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.981G>T; p.E327D; 15:59052405-59052405 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1813C>T; p.Q605*; 15:59076080-59076080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Nonsense |
c.267C>T; p.L89L; 15:59031089-59031089 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1801A>G; p.I601V; 15:59076068-59076068 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008G>A; p.R336R; 15:59055682-59055682 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.731G>A; p.R244Q; 15:59031553-59031553 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1959G>C; p.L653F; 15:59080946-59080946 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1911_1914delCTCT; p.L639fs*14; 15:59076178-59076181 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1911_1914delCTCT; p.L639fs*14; 15:59076178-59076181 |
breast | carcinoma | Deletion - Frameshift |
c.881-1G>A; p.?; 15:59052304-59052304 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1268C>T; p.S423F; 15:59058452-59058452 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2164C>T; p.Q722*; 15:59081151-59081151 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2848C>A; p.L950I; 15:59094787-59094787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2734delA; p.K913fs*29; 15:59091149-59091149 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.2033C>T; p.P678L; 15:59081020-59081020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1255T>C; p.S419P; 15:59058439-59058439 |
pancreas | carcinoma | Substitution - Missense |
c.2710A>G; p.R904G; 15:59091125-59091125 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1358C>G; p.S453C; 15:59058542-59058542 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.238_239GG>AA; p.G80N; 15:59031060-59031061 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1819G>A; p.A607T; 15:59076086-59076086 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1701G>A; p.V567V; 15:59075968-59075968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.250G>T; p.E84*; 15:59031072-59031072 |
liver | carcinoma | Substitution - Nonsense |
c.892G>A; p.E298K; 15:59052316-59052316 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.250G>T; p.E84*; 15:59031072-59031072 |
liver | carcinoma | Substitution - Nonsense |
c.1007+1G>T; p.?; 15:59052432-59052432 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1345A>C; p.T449P; 15:59058529-59058529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2712A>T; p.R904S; 15:59091127-59091127 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1345A>C; p.T449P; 15:59058529-59058529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.246G>A; p.Q82Q; 15:59031068-59031068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2038C>G; p.Q680E; 15:59081025-59081025 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1322C>T; p.S441L; 15:59058506-59058506 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.565A>G; p.T189A; 15:59031387-59031387 |
liver | carcinoma | Substitution - Missense |
c.565A>G; p.T189A; 15:59031387-59031387 |
liver | carcinoma | Substitution - Missense |
c.1487C>T; p.A496V; 15:59066884-59066884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.988A>C; p.T330P; 15:59052412-59052412 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845C>T; p.R949C; 15:59094784-59094784 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2437G>T; p.E813*; 15:59085672-59085672 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1793G>A; p.R598Q; 15:59076060-59076060 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1793G>A; p.R598Q; 15:59076060-59076060 |
breast | carcinoma | Substitution - Missense |
c.655A>C; p.N219H; 15:59031477-59031477 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2306A>G; p.H769R; 15:59084137-59084137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1322delC; p.S441fs*1; 15:59058506-59058506 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.2110C>T; p.P704S; 15:59081097-59081097 |
skin | malignant_melanoma | Substitution - Missense |
c.2801G>A; p.C934Y; 15:59092598-59092598 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.2403G>A; p.Q801Q; 15:59084234-59084234 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.644G>T; p.R215I; 15:59031466-59031466 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1724G>T; p.R575I; 15:59075991-59075991 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2225_2226delCA; p.Q743fs*6; 15:59081212-59081213 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1915C>A; p.L639I; 15:59076182-59076182 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.104G>A; p.G35E; 15:59030926-59030926 |
skin | malignant_melanoma | Substitution - Missense |
c.2860C>T; p.H954Y; 15:59094799-59094799 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1326T>C; p.A442A; 15:59058510-59058510 |
pancreas | carcinoma | Substitution - coding silent |
c.2860C>T; p.H954Y; 15:59094799-59094799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1326T>C; p.A442A; 15:59058510-59058510 |
pancreas | carcinoma | Substitution - coding silent |
c.1739G>A; p.G580D; 15:59076006-59076006 |
liver | carcinoma | Substitution - Missense |
c.1300C>A; p.P434T; 15:59058484-59058484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1983T>C; p.A661A; 15:59080970-59080970 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1373C>G; p.S458*; 15:59066770-59066770 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.874C>T; p.P292S; 15:59031696-59031696 |
skin | malignant_melanoma | Substitution - Missense |
c.2424G>C; p.W808C; 15:59085659-59085659 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2424G>C; p.W808C; 15:59085659-59085659 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2864T>G; p.L955R; 15:59094803-59094803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1871G>T; p.S624I; 15:59076138-59076138 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.758C>G; p.S253C; 15:59031580-59031580 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.730C>T; p.R244*; 15:59031552-59031552 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.730C>T; p.R244*; 15:59031552-59031552 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2300G>A; p.R767Q; 15:59084131-59084131 |
stomach | adenocarcinoma | Substitution - Missense |
c.1792C>T; p.R598*; 15:59076059-59076059 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1792C>T; p.R598*; 15:59076059-59076059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1792C>T; p.R598*; 15:59076059-59076059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.128T>A; p.I43N; 15:59030950-59030950 |
breast | carcinoma | Substitution - Missense |
c.2010delC; p.P672fs*42; 15:59080997-59080997 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2311C>T; p.R771C; 15:59084142-59084142 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2187G>T; p.Q729H; 15:59081174-59081174 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2187G>T; p.Q729H; 15:59081174-59081174 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.277delA; p.K94fs*23; 15:59031099-59031099 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.568G>T; p.E190*; 15:59031390-59031390 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2712A>G; p.R904R; 15:59091127-59091127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2712A>G; p.R904R; 15:59091127-59091127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2712A>G; p.R904R; 15:59091127-59091127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1681G>T; p.E561*; 15:59067078-59067078 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2672G>C; p.G891A; 15:59091087-59091087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1184T>C; p.V395A; 15:59058368-59058368 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1667G>A; p.G556D; 15:59067064-59067064 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1288A>C; p.T430P; 15:59058472-59058472 |
breast | carcinoma | Substitution - Missense |
c.2187G>C; p.Q729H; 15:59081174-59081174 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.214C>G; p.Q72E; 15:59031036-59031036 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.214C>G; p.Q72E; 15:59031036-59031036 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2468C>T; p.P823L; 15:59085703-59085703 |
breast | carcinoma | Substitution - Missense |
c.2687G>A; p.G896E; 15:59091102-59091102 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2687G>A; p.G896E; 15:59091102-59091102 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.698T>G; p.L233*; 15:59031520-59031520 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2056C>T; p.P686S; 15:59081043-59081043 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1531C>T; p.H511Y; 15:59066928-59066928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2297+1G>A; p.?; 15:59081285-59081285 |
breast | carcinoma | Unknown |
c.1909C>T; p.P637S; 15:59076176-59076176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2705T>C; p.I902T; 15:59091120-59091120 |
breast | carcinoma | Substitution - Missense |
c.2705T>C; p.I902T; 15:59091120-59091120 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1327A>C; p.T443P; 15:59058511-59058511 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2744A>T; p.K915I; 15:59092541-59092541 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.703C>T; p.Q235*; 15:59031525-59031525 |
prostate | carcinoma | Substitution - Nonsense |
c.536C>T; p.A179V; 15:59031358-59031358 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2488T>C; p.L830L; 15:59085723-59085723 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2177C>T; p.P726L; 15:59081164-59081164 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.617C>T; p.S206L; 15:59031439-59031439 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1545T>C; p.H515H; 15:59066942-59066942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1416T>C; p.P472P; 15:59066813-59066813 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2670A>C; p.L890F; 15:59091085-59091085 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2512C>T; p.R838*; 15:59085747-59085747 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.189A>C; p.E63D; 15:59031011-59031011 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2512C>T; p.R838*; 15:59085747-59085747 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.478G>T; p.E160*; 15:59031300-59031300 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |