Entrez Gene

Basic Information
Gene ID	4009
Name	LMX1A
Synonymous	LIM homeobox transcription factor 1, alpha;LMX1A;LIM homeobox transcription factor 1, alpha
Definition	LIM homeobox transcription factor 1-alpha\|LIM/homeobox protein 1.1
Position	1q24.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.126C>T; p.I42I; 1:165353213-165353213	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.911A>C; p.Q304P; 1:165205941-165205941	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.744G>A; p.A248A; 1:165210702-165210702	skin	malignant_melanoma	Substitution - coding silent
c.1122C>T; p.S374S; 1:165203907-165203907	skin	malignant_melanoma	Substitution - coding silent
c.331C>T; p.Q111*; 1:165249573-165249573	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.141G>T; p.L47L; 1:165353198-165353198	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1066T>A; p.S356T; 1:165203963-165203963	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.866C>T; p.P289L; 1:165205986-165205986	skin; scalp	malignant_melanoma	Substitution - Missense
c.437G>T; p.G146V; 1:165249467-165249467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172C>A; p.Q58K; 1:165353167-165353167	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1029C>T; p.T343T; 1:165204000-165204000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.906C>T; p.I302I; 1:165205946-165205946	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.177C>T; p.C59C; 1:165353162-165353162	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.906C>T; p.I302I; 1:165205946-165205946	skin	malignant_melanoma	Substitution - coding silent
c.938G>A; p.R313Q; 1:165205914-165205914	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.661T>C; p.C221R; 1:165213649-165213649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.938G>A; p.R313Q; 1:165205914-165205914	skin	malignant_melanoma	Substitution - Missense
c.258C>T; p.Y86Y; 1:165353081-165353081	pancreas	NS	Substitution - coding silent
c.472G>A; p.V158M; 1:165249432-165249432	skin	malignant_melanoma	Substitution - Missense
c.295G>A; p.E99K; 1:165249609-165249609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.650C>T; p.S217F; 1:165213660-165213660	skin	malignant_melanoma	Substitution - Missense
c.650C>T; p.S217F; 1:165213660-165213660	skin	malignant_melanoma	Substitution - Missense
c.1024G>A; p.D342N; 1:165204005-165204005	skin	malignant_melanoma	Substitution - Missense
c.109G>T; p.G37C; 1:165353230-165353230	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1024G>A; p.D342N; 1:165204005-165204005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>T; p.M1I; 1:165355557-165355557	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.423G>A; p.Q141Q; 1:165249481-165249481	skin	malignant_melanoma	Substitution - coding silent
c.423G>A; p.Q141Q; 1:165249481-165249481	skin	malignant_melanoma	Substitution - coding silent
c.1097G>A; p.G366E; 1:165203932-165203932	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1097G>A; p.G366E; 1:165203932-165203932	skin	malignant_melanoma	Substitution - Missense
c.890A>T; p.Q297L; 1:165205962-165205962	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.832G>T; p.G278C; 1:165206020-165206020	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445G>A; p.E149K; 1:165249459-165249459	skin	malignant_melanoma	Substitution - Missense
c.873G>T; p.T291T; 1:165205979-165205979	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1038T>A; p.S346R; 1:165203991-165203991	breast	carcinoma	Substitution - Missense
c.222C>A; p.F74L; 1:165353117-165353117	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1128G>T; p.Q376H; 1:165203901-165203901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.660C>A; p.P220P; 1:165213650-165213650	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.704G>A; p.S235N; 1:165210742-165210742	skin	malignant_melanoma	Substitution - Missense
c.1139T>C; p.F380S; 1:165203890-165203890	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.669+5A>G; p.?; 1:165213636-165213636	stomach	carcinoma; adenocarcinoma	Unknown
c.1136A>G; p.Y379C; 1:165203893-165203893	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.678G>A; p.E226E; 1:165210768-165210768	skin	malignant_melanoma	Substitution - coding silent
c.1102C>T; p.P368S; 1:165203927-165203927	skin	malignant_melanoma	Substitution - Missense
c.1102C>T; p.P368S; 1:165203927-165203927	skin	malignant_melanoma	Substitution - Missense
c.931C>G; p.P311A; 1:165205921-165205921	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.546G>A; p.G182G; 1:165213764-165213764	skin	malignant_melanoma	Substitution - coding silent
c.208G>A; p.E70K; 1:165353131-165353131	skin	malignant_melanoma	Substitution - Missense
c.462G>A; p.L154L; 1:165249442-165249442	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.953C>T; p.P318L; 1:165205899-165205899	skin	malignant_melanoma	Substitution - Missense
c.596G>A; p.R199K; 1:165213714-165213714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1056C>T; p.F352F; 1:165203973-165203973	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.715G>A; p.V239I; 1:165210731-165210731	pancreas	carcinoma	Substitution - Missense
c.304G>A; p.A102T; 1:165249600-165249600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.715G>A; p.V239I; 1:165210731-165210731	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.715G>A; p.V239I; 1:165210731-165210731	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.304G>A; p.A102T; 1:165249600-165249600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.304G>A; p.A102T; 1:165249600-165249600	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.304G>A; p.A102T; 1:165249600-165249600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.719A>C; p.Q240P; 1:165210727-165210727	NS	NS	Substitution - Missense
c.599C>T; p.T200I; 1:165213711-165213711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.304G>T; p.A102S; 1:165249600-165249600	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>T; p.L338L; 1:165204017-165204017	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.869A>T; p.Y290F; 1:165205983-165205983	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.718C>T; p.Q240*; 1:165210728-165210728	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.807_808GC>AA; p.R269>?; 1:165208072-165208073	lung	carcinoma; adenocarcinoma	Complex
c.415G>A; p.E139K; 1:165249489-165249489	skin	malignant_melanoma	Substitution - Missense
c.1066T>C; p.S356P; 1:165203963-165203963	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.886C>T; p.P296S; 1:165205966-165205966	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.54G>A; p.S18S; 1:165355506-165355506	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.336G>A; p.K112K; 1:165249568-165249568	skin	malignant_melanoma	Substitution - coding silent
c.845G>A; p.G282E; 1:165206007-165206007	skin	malignant_melanoma	Substitution - Missense
c.580C>A; p.R194S; 1:165213730-165213730	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.489A>G; p.S163S; 1:165249415-165249415	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.862A>G; p.N288D; 1:165205990-165205990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>A; p.L338M; 1:165204017-165204017	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.854G>T; p.G285V; 1:165205998-165205998	prostate	carcinoma	Substitution - Missense
c.589C>T; p.R197C; 1:165213721-165213721	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.861G>A; p.M287I; 1:165205991-165205991	skin	malignant_melanoma	Substitution - Missense
c.202C>G; p.P68A; 1:165353137-165353137	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1036A>T; p.S346C; 1:165203993-165203993	urinary_tract; bladder	carcinoma	Substitution - Missense
c.106G>C; p.E36Q; 1:165353233-165353233	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.580C>T; p.R194C; 1:165213730-165213730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.580C>T; p.R194C; 1:165213730-165213730	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>T; p.S159S; 1:165249427-165249427	skin	malignant_melanoma	Substitution - coding silent
c.239T>G; p.L80R; 1:165353100-165353100	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1045G>A; p.G349S; 1:165203984-165203984	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>A; p.R152R; 1:165249448-165249448	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.59C>A; p.S20Y; 1:165355501-165355501	liver	carcinoma	Substitution - Missense
c.1103C>T; p.P368L; 1:165203926-165203926	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.861G>T; p.M287I; 1:165205991-165205991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.615A>T; p.Q205H; 1:165213695-165213695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.227G>T; p.R76L; 1:165353112-165353112	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.227G>T; p.R76L; 1:165353112-165353112	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.438G>A; p.G146G; 1:165249466-165249466	skin	malignant_melanoma	Substitution - coding silent
c.814T>G; p.S272A; 1:165208066-165208066	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1069delG; p.E357fs*>26; 1:165203960-165203960	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.908A>G; p.E303G; 1:165205944-165205944	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.534C>T; p.A178A; 1:165213776-165213776	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.314A>C; p.E105A; 1:165249590-165249590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.522C>T; p.L174L; 1:165213788-165213788	skin	malignant_melanoma	Substitution - coding silent
c.522C>T; p.L174L; 1:165213788-165213788	skin	malignant_melanoma	Substitution - coding silent
c.536A>G; p.H179R; 1:165213774-165213774	central_nervous_system; brain	glioma	Substitution - Missense
c.296A>G; p.E99G; 1:165249608-165249608	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.185G>A; p.C62Y; 1:165353154-165353154	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.692A>G; p.E231G; 1:165210754-165210754	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.145C>T; p.R49W; 1:165353194-165353194	thyroid	carcinoma	Substitution - Missense
c.510T>G; p.D170E; 1:165213800-165213800	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.551G>A; p.G184E; 1:165213759-165213759	skin	malignant_melanoma	Substitution - Missense
c.551G>A; p.G184E; 1:165213759-165213759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9C>T; p.D3D; 1:165355551-165355551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071A>G; p.E357E; 1:165203958-165203958	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.940C>A; p.Q314K; 1:165205912-165205912	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.325C>T; p.R109W; 1:165249579-165249579	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.622C>T; p.R208*; 1:165213688-165213688	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.555T>C; p.T185T; 1:165213755-165213755	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.555T>C; p.T185T; 1:165213755-165213755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.303C>T; p.I101I; 1:165249601-165249601	skin	malignant_melanoma	Substitution - coding silent
c.1020C>T; p.S340S; 1:165204009-165204009	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.933C>A; p.P311P; 1:165205919-165205919	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.777_785delGCAGCAGCA; p.Q260_Q262delQQQ; 1:165208095-165208103	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.815C>A; p.S272Y; 1:165208065-165208065	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.294C>T; p.F98F; 1:165249610-165249610	skin	malignant_melanoma	Substitution - coding silent
c.294C>T; p.F98F; 1:165249610-165249610	skin	malignant_melanoma	Substitution - coding silent
c.294C>T; p.F98F; 1:165249610-165249610	skin	malignant_melanoma	Substitution - coding silent
c.294C>T; p.F98F; 1:165249610-165249610	skin	malignant_melanoma	Substitution - coding silent
c.294C>T; p.F98F; 1:165249610-165249610	skin	malignant_melanoma	Substitution - coding silent
c.294C>T; p.F98F; 1:165249610-165249610	skin	malignant_melanoma	Substitution - coding silent
c.633G>T; p.K211N; 1:165213677-165213677	skin	malignant_melanoma	Substitution - Missense
c.1031C>T; p.S344F; 1:165203998-165203998	skin	malignant_melanoma	Substitution - Missense
c.130G>C; p.D44H; 1:165353209-165353209	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.624A>C; p.R208R; 1:165213686-165213686	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.562G>A; p.E188K; 1:165213748-165213748	skin	malignant_melanoma	Substitution - Missense
c.993C>T; p.A331A; 1:165204036-165204036	stomach	adenocarcinoma	Substitution - coding silent
c.993C>T; p.A331A; 1:165204036-165204036	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1069G>T; p.E357*; 1:165203960-165203960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.993C>T; p.A331A; 1:165204036-165204036	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.581G>A; p.R194H; 1:165213729-165213729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.264-10C>A; p.?; 1:165249650-165249650	pancreas	carcinoma	Unknown
c.85G>T; p.V29L; 1:165353254-165353254	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.511G>A; p.E171K; 1:165213799-165213799	skin	malignant_melanoma	Substitution - Missense
c.511G>A; p.E171K; 1:165213799-165213799	skin	malignant_melanoma	Substitution - Missense
c.937C>T; p.R313*; 1:165205915-165205915	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.665G>T; p.R222M; 1:165213645-165213645	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.937C>T; p.R313*; 1:165205915-165205915	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.937C>T; p.R313*; 1:165205915-165205915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1114C>A; p.L372M; 1:165203915-165203915	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.570G>A; p.K190K; 1:165213740-165213740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.570G>A; p.K190K; 1:165213740-165213740	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1094T>A; p.V365E; 1:165203935-165203935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.216C>T; p.T72T; 1:165353123-165353123	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.944G>A; p.G315D; 1:165205908-165205908	skin	malignant_melanoma	Substitution - Missense
c.774G>A; p.Q258Q; 1:165208106-165208106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.226C>A; p.R76R; 1:165353113-165353113	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.613C>A; p.Q205K; 1:165213697-165213697	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.553A>C; p.T185P; 1:165213757-165213757	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.335A>C; p.K112T; 1:165249569-165249569	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.926C>T; p.S309L; 1:165205926-165205926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.380G>A; p.R127Q; 1:165249524-165249524	skin	malignant_melanoma	Substitution - Missense
c.1040A>T; p.N347I; 1:165203989-165203989	skin	malignant_melanoma	Substitution - Missense
c.555T>G; p.T185T; 1:165213755-165213755	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.756G>C; p.K252N; 1:165208124-165208124	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.801C>A; p.T267T; 1:165208079-165208079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1021G>A; p.D341N; 1:165204008-165204008	pancreas	carcinoma	Substitution - Missense
c.573C>T; p.D191D; 1:165213737-165213737	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.388C>T; p.Q130*; 1:165249516-165249516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.573C>T; p.D191D; 1:165213737-165213737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.714C>T; p.V238V; 1:165210732-165210732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>T; p.V238V; 1:165210732-165210732	skin	malignant_melanoma	Substitution - coding silent
c.184T>C; p.C62R; 1:165353155-165353155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.932C>T; p.P311L; 1:165205920-165205920	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.60C>A; p.S20S; 1:165355500-165355500	liver	carcinoma	Substitution - coding silent
c.119G>A; p.R40Q; 1:165353220-165353220	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1035C>T; p.L345L; 1:165203994-165203994	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1067C>G; p.S356*; 1:165203962-165203962	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.721G>A; p.V241M; 1:165210725-165210725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.422A>T; p.Q141L; 1:165249482-165249482	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.897C>T; p.L299L; 1:165205955-165205955	skin	malignant_melanoma	Substitution - coding silent
c.766C>T; p.R256*; 1:165208114-165208114	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.943G>A; p.G315S; 1:165205909-165205909	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]