| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 59 | ||
Name | ACTA2 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.367C>G; p.Q123E; 10:88943799-88943799 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.220G>T; p.E74*; 10:88947296-88947296 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.696C>T; p.A232A; 10:88939619-88939619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.496C>G; p.P166A; 10:88941349-88941349 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.496C>G; p.P166A; 10:88941349-88941349 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.836C>A; p.T279N; 10:88938215-88938215 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.844A>G; p.N282D; 10:88938207-88938207 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.653T>A; p.L218Q; 10:88939662-88939662 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.327G>T; p.E109D; 10:88943839-88943839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.327G>T; p.E109D; 10:88943839-88943839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.246C>T; p.D82D; 10:88947270-88947270 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.983A>C; p.K328T; 10:88938068-88938068 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.607G>A; p.V203I; 10:88941238-88941238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.607G>A; p.V203I; 10:88941238-88941238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.607G>A; p.V203I; 10:88941238-88941238 |
stomach | adenocarcinoma | Substitution - Missense |
c.607G>A; p.V203I; 10:88941238-88941238 |
breast | carcinoma | Substitution - Missense |
c.727G>A; p.E243K; 10:88939588-88939588 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.289C>T; p.R97C; 10:88943877-88943877 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.107T>C; p.I36T; 10:88948824-88948824 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.290G>A; p.R97H; 10:88943876-88943876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1001C>T; p.P334L; 10:88935356-88935356 |
skin | malignant_melanoma | Substitution - Missense |
c.324G>A; p.T108T; 10:88943842-88943842 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1006G>A; p.E336K; 10:88935351-88935351 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.174C>T; p.D58D; 10:88947342-88947342 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.657T>C; p.C219C; 10:88939658-88939658 |
pancreas | carcinoma | Substitution - coding silent |
c.115C>T; p.R39C; 10:88948816-88948816 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.447C>T; p.R149R; 10:88941792-88941792 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.808+6C>G; p.?; 10:88939501-88939501 |
skin; leg | malignant_melanoma; nodular | Unknown |
c.64G>A; p.G22S; 10:88948867-88948867 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>T; p.R179C; 10:88941310-88941310 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.832G>A; p.E278K; 10:88938219-88938219 |
skin | malignant_melanoma | Substitution - Missense |
c.175G>A; p.E59K; 10:88947341-88947341 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.470C>T; p.S157F; 10:88941375-88941375 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.349A>G; p.N117D; 10:88943817-88943817 |
skin | malignant_melanoma | Substitution - Missense |
c.726C>T; p.Y242Y; 10:88939589-88939589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1032T>C; p.G344G; 10:88935325-88935325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.742C>T; p.Q248*; 10:88939573-88939573 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.737A>G; p.D246G; 10:88939578-88939578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.554G>A; p.R185Q; 10:88941291-88941291 |
breast | carcinoma | Substitution - Missense |
c.783G>A; p.E261E; 10:88939532-88939532 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740G>A; p.G247E; 10:88939575-88939575 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.130-3_130-2insT; p.?; 10:88947388-88947389 |
skin | malignant_melanoma | Unknown |
c.1005G>A; p.P335P; 10:88935352-88935352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1005G>A; p.P335P; 10:88935352-88935352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.288T>A; p.L96L; 10:88943878-88943878 |
ovary | other; neoplasm | Substitution - coding silent |
c.767G>A; p.R256H; 10:88939548-88939548 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.92C>T; p.A31V; 10:88948839-88948839 |
ovary | other; neoplasm | Substitution - Missense |
c.13G>C; p.E5Q; 10:88948918-88948918 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073G>A; p.W358*; 10:88935284-88935284 |
skin | malignant_melanoma | Substitution - Nonsense |
c.941G>A; p.R314Q; 10:88938110-88938110 |
skin | malignant_melanoma | Substitution - Missense |
c.479G>C; p.G160A; 10:88941366-88941366 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.940C>T; p.R314*; 10:88938111-88938111 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.116G>A; p.R39H; 10:88948815-88948815 |
breast | carcinoma | Substitution - Missense |
c.116G>A; p.R39H; 10:88948815-88948815 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.386T>C; p.F129S; 10:88941853-88941853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.911delG; p.G304fs*19; 10:88938140-88938140 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.950A>C; p.K317T; 10:88938101-88938101 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.78C>T; p.D26D; 10:88948853-88948853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.606C>T; p.F202F; 10:88941239-88941239 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1092C>T; p.Y364Y; 10:88935265-88935265 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.633C>A; p.V211V; 10:88939682-88939682 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.345G>T; p.K115N; 10:88943821-88943821 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.369A>C; p.Q123H; 10:88943797-88943797 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |