Entrez Gene

Basic Information
Gene ID	57591
Name	MKL1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.153G>A; p.E51E; 22:40429754-40429754	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2437C>T; p.R813C; 22:40411749-40411749	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2437C>T; p.R813C; 22:40411749-40411749	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1084C>T; p.R362*; 22:40419354-40419354	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.83G>A; p.R28Q; 22:40431461-40431461	skin	malignant_melanoma	Substitution - Missense
c.2437C>T; p.R813C; 22:40411749-40411749	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.774C>G; p.S258S; 22:40420954-40420954	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.979G>T; p.G327W; 22:40420479-40420479	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2073C>T; p.S691S; 22:40417485-40417485	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.547C>T; p.P183S; 22:40423616-40423616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2755G>A; p.D919N; 22:40411431-40411431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1826T>C; p.I609T; 22:40418612-40418612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.733delG; p.D245fs*92; 22:40420995-40420995	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.327A>T; p.V109V; 22:40424356-40424356	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420G>T; p.D474Y; 22:40419018-40419018	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4C>T; p.P2S; 22:40463224-40463224	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.495G>A; p.P165P; 22:40423668-40423668	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.111G>A; p.S37S; 22:40431433-40431433	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1625G>A; p.R542Q; 22:40418813-40418813	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1625G>A; p.R542Q; 22:40418813-40418813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.102G>A; p.P34P; 22:40431442-40431442	liver	carcinoma	Substitution - coding silent
c.102G>A; p.P34P; 22:40431442-40431442	liver	carcinoma	Substitution - coding silent
c.1250C>T; p.T417M; 22:40419188-40419188	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1578G>A; p.M526I; 22:40418860-40418860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2359delC; p.L787fs*41; 22:40411827-40411827	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1552C>G; p.L518V; 22:40418886-40418886	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2765A>T; p.D922V; 22:40411421-40411421	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.731_732insC; p.D245fs*72; 22:40420996-40420997	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1416delC; p.D474fs*7; 22:40419022-40419022	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2102C>T; p.S701F; 22:40417456-40417456	skin	malignant_melanoma	Substitution - Missense
c.879A>G; p.P293P; 22:40420849-40420849	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2693C>A; p.P898H; 22:40411493-40411493	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2413C>G; p.P805A; 22:40411773-40411773	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.614C>T; p.P205L; 22:40423549-40423549	skin	malignant_melanoma	Substitution - Missense
c.609C>T; p.S203S; 22:40423554-40423554	skin	malignant_melanoma	Substitution - coding silent
c.1980C>T; p.T660T; 22:40418458-40418458	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2149_2150CC>TT; p.P717F; 22:40417408-40417409	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.96C>T; p.S32S; 22:40431448-40431448	skin	malignant_melanoma	Substitution - coding silent
c.1753C>T; p.Q585*; 22:40418685-40418685	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1231C>T; p.P411S; 22:40419207-40419207	skin	malignant_melanoma	Substitution - Missense
c.430C>G; p.R144G; 22:40424253-40424253	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1832C>A; p.P611H; 22:40418606-40418606	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.784A>T; p.I262F; 22:40420944-40420944	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1475C>T; p.S492L; 22:40418963-40418963	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.255G>T; p.E85D; 22:40429652-40429652	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.891C>T; p.G297G; 22:40420567-40420567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2394C>T; p.P798P; 22:40411792-40411792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.764T>C; p.M255T; 22:40420964-40420964	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.468C>T; p.S156S; 22:40424215-40424215	skin	malignant_melanoma	Substitution - coding silent
c.764T>C; p.M255T; 22:40420964-40420964	stomach	adenocarcinoma	Substitution - Missense
c.1436T>C; p.M479T; 22:40419002-40419002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1712T>C; p.L571P; 22:40418726-40418726	skin; trunk	malignant_melanoma	Substitution - Missense
c.778delG; p.A260fs*77; 22:40420950-40420950	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.110C>T; p.S37L; 22:40431434-40431434	skin	malignant_melanoma	Substitution - Missense
c.1897G>C; p.E633Q; 22:40418541-40418541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1693G>A; p.A565T; 22:40418745-40418745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2574G>A; p.P858P; 22:40411612-40411612	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2574G>A; p.P858P; 22:40411612-40411612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2231C>T; p.S744L; 22:40417033-40417033	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1491C>G; p.L497L; 22:40418947-40418947	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.91C>A; p.R31S; 22:40431453-40431453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.920_921insC; p.V308fs*9; 22:40420537-40420538	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.920_921insC; p.V308fs*9; 22:40420537-40420538	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1351C>T; p.P451S; 22:40419087-40419087	thyroid	carcinoma	Substitution - Missense
c.2444A>G; p.E815G; 22:40411742-40411742	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2444A>G; p.E815G; 22:40411742-40411742	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2334_2335CC>TT; p.P779S; 22:40411851-40411852	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1704C>G; p.P568P; 22:40418734-40418734	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2524G>A; p.D842N; 22:40411662-40411662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1967C>T; p.P656L; 22:40418471-40418471	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.761C>A; p.P254H; 22:40420967-40420967	ovary	other; neoplasm	Substitution - Missense
c.782A>T; p.K261M; 22:40420946-40420946	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1342G>A; p.G448S; 22:40419096-40419096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.251T>A; p.V84E; 22:40429656-40429656	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.236G>A; p.G79D; 22:40429671-40429671	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.139+2T>C; p.?; 22:40431403-40431403	stomach	carcinoma; adenocarcinoma	Unknown
c.2044T>C; p.S682P; 22:40418394-40418394	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1847C>T; p.P616L; 22:40418591-40418591	skin	malignant_melanoma	Substitution - Missense
c.780C>T; p.A260A; 22:40420948-40420948	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.731delC; p.P244fs*93; 22:40420997-40420997	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1561C>T; p.R521C; 22:40418877-40418877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.783G>T; p.K261N; 22:40420945-40420945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1538G>A; p.G513E; 22:40418900-40418900	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1476G>A; p.S492S; 22:40418962-40418962	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1925T>G; p.L642R; 22:40418513-40418513	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1915delC; p.Q639fs*33; 22:40418523-40418523	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.115C>G; p.L39V; 22:40431429-40431429	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1561C>A; p.R521S; 22:40418877-40418877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2064+1G>A; p.?; 22:40418373-40418373	ovary	carcinoma; serous_carcinoma	Unknown
c.781A>G; p.K261E; 22:40420947-40420947	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1831C>T; p.P611S; 22:40418607-40418607	skin	malignant_melanoma	Substitution - Missense
c.55C>T; p.R19W; 22:40435507-40435507	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.55C>T; p.R19W; 22:40435507-40435507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.55C>T; p.R19W; 22:40435507-40435507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.55C>T; p.R19W; 22:40435507-40435507	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.778G>C; p.A260P; 22:40420950-40420950	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.778G>A; p.A260T; 22:40420950-40420950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.377A>G; p.E126G; 22:40424306-40424306	skin	malignant_melanoma	Substitution - Missense
c.773C>G; p.S258C; 22:40420955-40420955	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1699G>C; p.A567P; 22:40418739-40418739	liver	carcinoma	Substitution - Missense
c.2353T>C; p.S785P; 22:40411833-40411833	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1603G>A; p.E535K; 22:40418835-40418835	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.775T>C; p.Y259H; 22:40420953-40420953	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.567T>A; p.P189P; 22:40423596-40423596	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.831G>C; p.Q277H; 22:40420897-40420897	skin	malignant_melanoma	Substitution - Missense
c.470C>A; p.P157H; 22:40424213-40424213	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.831G>C; p.Q277H; 22:40420897-40420897	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1950C>T; p.I650I; 22:40418488-40418488	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1823A>G; p.H608R; 22:40418615-40418615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1126C>T; p.R376C; 22:40419312-40419312	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.97C>T; p.R33W; 22:40431447-40431447	skin	malignant_melanoma	Substitution - Missense
c.97C>T; p.R33W; 22:40431447-40431447	skin	malignant_melanoma	Substitution - Missense
c.2573delC; p.P858fs*43; 22:40411613-40411613	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.783G>C; p.K261N; 22:40420945-40420945	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1562G>A; p.R521H; 22:40418876-40418876	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.36G>A; p.E12E; 22:40435526-40435526	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1361C>G; p.S454C; 22:40419077-40419077	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2627T>C; p.M876T; 22:40411559-40411559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.799delC; p.Q267fs*70; 22:40420929-40420929	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1806G>A; p.A602A; 22:40418632-40418632	thyroid	other; neoplasm	Substitution - coding silent
c.1317T>C; p.S439S; 22:40419121-40419121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1806G>A; p.A602A; 22:40418632-40418632	thyroid	other; neoplasm	Substitution - coding silent
c.1942A>G; p.S648G; 22:40418496-40418496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1172C>T; p.P391L; 22:40419266-40419266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2359_2360insC; p.L787fs*10; 22:40411826-40411827	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.244G>A; p.E82K; 22:40429663-40429663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1172C>T; p.P391L; 22:40419266-40419266	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.646_650delGCCAG; p.A216fs*1; 22:40421078-40421082	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2030A>G; p.D677G; 22:40418408-40418408	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2493T>C; p.H831H; 22:40411693-40411693	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1466T>C; p.L489P; 22:40418972-40418972	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1466T>C; p.L489P; 22:40418972-40418972	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.13A>G; p.K5E; 22:40435549-40435549	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.802_803insAGC; p.Q267_L268insQ; 22:40420925-40420926	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.202G>A; p.D68N; 22:40429705-40429705	breast	carcinoma	Substitution - Missense
c.1956G>T; p.G652G; 22:40418482-40418482	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2550C>T; p.S850S; 22:40411636-40411636	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.258G>A; p.K86K; 22:40429649-40429649	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1563C>T; p.R521R; 22:40418875-40418875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1213G>A; p.E405K; 22:40419225-40419225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.376G>A; p.E126K; 22:40424307-40424307	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1547C>T; p.A516V; 22:40418891-40418891	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060G>A; p.E354K; 22:40419378-40419378	skin	malignant_melanoma	Substitution - Missense
c.5C>G; p.P2R; 22:40463223-40463223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.876G>A; p.P292P; 22:40420852-40420852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.161T>C; p.L54P; 22:40429746-40429746	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1268C>T; p.A423V; 22:40419170-40419170	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.48C>G; p.S16R; 22:40435514-40435514	ovary	other; neoplasm	Substitution - Missense
c.1896C>T; p.P632P; 22:40418542-40418542	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.731C>T; p.P244L; 22:40420997-40420997	breast	carcinoma	Substitution - Missense
c.1340C>T; p.T447M; 22:40419098-40419098	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1455G>A; p.T485T; 22:40418983-40418983	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.988C>T; p.R330C; 22:40420470-40420470	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1796C>T; p.P599L; 22:40418642-40418642	skin	malignant_melanoma	Substitution - Missense
c.1860C>T; p.S620S; 22:40418578-40418578	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1860C>T; p.S620S; 22:40418578-40418578	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.682G>A; p.E228K; 22:40421046-40421046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1848G>A; p.P616P; 22:40418590-40418590	thyroid	other; neoplasm	Substitution - coding silent
c.6G>A; p.P2P; 22:40463222-40463222	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1402G>A; p.E468K; 22:40419036-40419036	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2319G>T; p.G773G; 22:40411867-40411867	breast	carcinoma	Substitution - coding silent
c.989G>A; p.R330H; 22:40420469-40420469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.172C>T; p.Q58*; 22:40429735-40429735	breast	carcinoma	Substitution - Nonsense
c.975C>G; p.P325P; 22:40420483-40420483	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - coding silent
c.162C>T; p.L54L; 22:40429745-40429745	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.91C>T; p.R31C; 22:40431453-40431453	skin	malignant_melanoma	Substitution - Missense
c.760C>T; p.P254S; 22:40420968-40420968	skin	malignant_melanoma	Substitution - Missense
c.222T>G; p.I74M; 22:40429685-40429685	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1322T>G; p.V441G; 22:40419116-40419116	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.346G>A; p.D116N; 22:40424337-40424337	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1417G>A; p.G473R; 22:40419021-40419021	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database