Entrez Gene

Basic Information
Gene ID	9794
Name	MAML1
Synonymous	mastermind-like 1 (Drosophila);MAML1;mastermind-like 1 (Drosophila)
Definition	mastermind homolog\|mastermind-like protein 1
Position	5q35
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.612C>A; p.P204P; 5:179765622-179765622	prostate	carcinoma	Substitution - coding silent
c.1274G>T; p.G425V; 5:179766284-179766284	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.840C>T; p.D280D; 5:179765850-179765850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.697G>T; p.G233C; 5:179765707-179765707	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1612G>A; p.A538T; 5:179766622-179766622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2356A>G; p.N786D; 5:179774182-179774182	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2356A>G; p.N786D; 5:179774182-179774182	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.455C>A; p.S152Y; 5:179765465-179765465	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.351C>T; p.S117S; 5:179765361-179765361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1803C>T; p.S601S; 5:179768921-179768921	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2007A>G; p.P669P; 5:179771182-179771182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.618G>C; p.E206D; 5:179765628-179765628	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3020G>A; p.S1007N; 5:179774846-179774846	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3020G>A; p.S1007N; 5:179774846-179774846	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2596T>C; p.F866L; 5:179774422-179774422	central_nervous_system; brain	glioma	Substitution - Missense
c.404C>G; p.P135R; 5:179765414-179765414	parathyroid	carcinoma	Substitution - Missense
c.1463A>T; p.N488I; 5:179766473-179766473	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.2850C>T; p.G950G; 5:179774676-179774676	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.352G>A; p.A118T; 5:179765362-179765362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.317A>G; p.H106R; 5:179765327-179765327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1471A>T; p.S491C; 5:179766481-179766481	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1095G>A; p.P365P; 5:179766105-179766105	breast	carcinoma	Substitution - coding silent
c.2452C>T; p.P818S; 5:179774278-179774278	skin	malignant_melanoma	Substitution - Missense
c.2974C>T; p.L992L; 5:179774800-179774800	skin	malignant_melanoma	Substitution - coding silent
c.2323A>G; p.T775A; 5:179774149-179774149	liver	carcinoma	Substitution - Missense
c.2447T>C; p.L816P; 5:179774273-179774273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2323A>G; p.T775A; 5:179774149-179774149	liver	carcinoma	Substitution - Missense
c.2643C>G; p.F881L; 5:179774469-179774469	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1300G>T; p.G434W; 5:179766310-179766310	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3029A>G; p.D1010G; 5:179774855-179774855	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2740G>A; p.A914T; 5:179774566-179774566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1855G>T; p.A619S; 5:179768973-179768973	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1271C>G; p.P424R; 5:179766281-179766281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1299G>T; p.T433T; 5:179766309-179766309	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1212C>G; p.A404A; 5:179766222-179766222	thyroid	other; neoplasm	Substitution - coding silent
c.1855G>A; p.A619T; 5:179768973-179768973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2150A>T; p.N717I; 5:179773976-179773976	breast	carcinoma	Substitution - Missense
c.145C>A; p.L49M; 5:179733257-179733257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1281G>A; p.M427I; 5:179766291-179766291	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1349C>T; p.A450V; 5:179766359-179766359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1224C>T; p.R408R; 5:179766234-179766234	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1113G>A; p.Q371Q; 5:179766123-179766123	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1113G>A; p.Q371Q; 5:179766123-179766123	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.752G>C; p.W251S; 5:179765762-179765762	ovary	other; neoplasm	Substitution - Missense
c.575C>T; p.A192V; 5:179765585-179765585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.364C>T; p.Q122*; 5:179765374-179765374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1857T>C; p.A619A; 5:179768975-179768975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2154G>T; p.L718L; 5:179773980-179773980	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.476delC; p.L161fs*23; 5:179765486-179765486	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2824A>T; p.S942C; 5:179774650-179774650	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.945A>G; p.P315P; 5:179765955-179765955	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1427G>A; p.R476Q; 5:179766437-179766437	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.289G>C; p.G97R; 5:179733401-179733401	thyroid	other; neoplasm	Substitution - Missense
c.289G>C; p.G97R; 5:179733401-179733401	thyroid	other; neoplasm	Substitution - Missense
c.2541C>T; p.L847L; 5:179774367-179774367	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1925A>T; p.Q642L; 5:179769043-179769043	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1817A>G; p.H606R; 5:179768935-179768935	stomach	adenocarcinoma	Substitution - Missense
c.1925A>T; p.Q642L; 5:179769043-179769043	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2875C>T; p.Q959*; 5:179774701-179774701	skin	malignant_melanoma	Substitution - Nonsense
c.390C>T; p.Y130Y; 5:179765400-179765400	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2682C>T; p.S894S; 5:179774508-179774508	prostate	carcinoma	Substitution - coding silent
c.844G>A; p.E282K; 5:179765854-179765854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2371A>C; p.T791P; 5:179774197-179774197	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.373G>A; p.D125N; 5:179765383-179765383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.433C>T; p.P145S; 5:179765443-179765443	skin	malignant_melanoma	Substitution - Missense
c.1402C>T; p.P468S; 5:179766412-179766412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1201C>T; p.Q401*; 5:179766211-179766211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1876T>C; p.L626L; 5:179768994-179768994	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1271C>T; p.P424L; 5:179766281-179766281	skin; extremity	malignant_melanoma	Substitution - Missense
c.1589C>G; p.P530R; 5:179766599-179766599	skin	malignant_melanoma	Substitution - Missense
c.742G>A; p.E248K; 5:179765752-179765752	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2517G>A; p.W839*; 5:179774343-179774343	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1297A>T; p.T433S; 5:179766307-179766307	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1063C>G; p.R355G; 5:179766073-179766073	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1887C>G; p.D629E; 5:179769005-179769005	stomach	adenocarcinoma	Substitution - Missense
c.522G>C; p.Q174H; 5:179765532-179765532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.569G>A; p.R190H; 5:179765579-179765579	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2908C>T; p.L970L; 5:179774734-179774734	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.1426C>T; p.R476W; 5:179766436-179766436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2946G>T; p.G982G; 5:179774772-179774772	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1793C>T; p.P598L; 5:179768911-179768911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2912C>T; p.P971L; 5:179774738-179774738	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2082C>G; p.A694A; 5:179773908-179773908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.614G>T; p.S205I; 5:179765624-179765624	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2513C>T; p.S838F; 5:179774339-179774339	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2513C>T; p.S838F; 5:179774339-179774339	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.2284G>T; p.G762C; 5:179774110-179774110	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2928G>A; p.G976G; 5:179774754-179774754	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2497G>T; p.G833*; 5:179774323-179774323	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1174G>T; p.E392*; 5:179766184-179766184	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.1965G>A; p.A655A; 5:179769083-179769083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1372G>T; p.D458Y; 5:179766382-179766382	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1754C>T; p.P585L; 5:179768872-179768872	breast	carcinoma	Substitution - Missense
c.658C>T; p.P220S; 5:179765668-179765668	central_nervous_system; brain	glioma	Substitution - Missense
c.1184C>T; p.S395F; 5:179766194-179766194	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.670C>G; p.L224V; 5:179765680-179765680	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2087C>T; p.P696L; 5:179773913-179773913	skin	malignant_melanoma	Substitution - Missense
c.2471C>T; p.P824L; 5:179774297-179774297	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1520G>T; p.G507V; 5:179766530-179766530	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>T; p.E215*; 5:179765653-179765653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1163G>T; p.G388V; 5:179766173-179766173	prostate	adenoma	Substitution - Missense
c.2344C>A; p.P782T; 5:179774170-179774170	breast	carcinoma	Substitution - Missense
c.425G>A; p.R142Q; 5:179765435-179765435	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2002C>T; p.R668C; 5:179771177-179771177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2002C>T; p.R668C; 5:179771177-179771177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997C>T; p.P333S; 5:179766007-179766007	skin	malignant_melanoma	Substitution - Missense
c.493G>T; p.D165Y; 5:179765503-179765503	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1268delC; p.P424fs*17; 5:179766278-179766278	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.562A>G; p.K188E; 5:179765572-179765572	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1127delC; p.A378fs*63; 5:179766137-179766137	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2115C>A; p.N705K; 5:179773941-179773941	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2605C>A; p.Q869K; 5:179774431-179774431	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.1509G>A; p.A503A; 5:179766519-179766519	breast	carcinoma	Substitution - coding silent
c.1619T>A; p.M540K; 5:179766629-179766629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793G>T; p.E265*; 5:179765803-179765803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2088C>A; p.P696P; 5:179773914-179773914	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2985C>G; p.S995S; 5:179774811-179774811	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2010A>C; p.P670P; 5:179771185-179771185	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.2951C>G; p.S984C; 5:179774777-179774777	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2635C>T; p.P879S; 5:179774461-179774461	skin	malignant_melanoma	Substitution - Missense
c.2677A>G; p.M893V; 5:179774503-179774503	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2226G>A; p.V742V; 5:179774052-179774052	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2348G>A; p.R783Q; 5:179774174-179774174	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.372C>T; p.G124G; 5:179765382-179765382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2312C>T; p.P771L; 5:179774138-179774138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.524C>A; p.S175Y; 5:179765534-179765534	prostate	carcinoma	Substitution - Missense
c.2138C>A; p.P713H; 5:179773964-179773964	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1276C>A; p.Q426K; 5:179766286-179766286	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1832A>G; p.Y611C; 5:179768950-179768950	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1874A>G; p.Q625R; 5:179768992-179768992	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.831G>A; p.E277E; 5:179765841-179765841	thyroid	carcinoma	Substitution - coding silent
c.1512T>A; p.N504K; 5:179766522-179766522	skin	malignant_melanoma	Substitution - Missense
c.1589C>T; p.P530L; 5:179766599-179766599	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.P135S; 5:179765413-179765413	skin	malignant_melanoma	Substitution - Missense
c.2204C>G; p.S735*; 5:179774030-179774030	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2885C>A; p.P962H; 5:179774711-179774711	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2620C>T; p.L874L; 5:179774446-179774446	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2684C>T; p.S895L; 5:179774510-179774510	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1485G>A; p.P495P; 5:179766495-179766495	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1294C>T; p.Q432*; 5:179766304-179766304	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1421delC; p.P475fs*13; 5:179766431-179766431	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2258A>G; p.Q753R; 5:179774084-179774084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1591G>T; p.G531W; 5:179766601-179766601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1591G>T; p.G531W; 5:179766601-179766601	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.876G>A; p.L292L; 5:179765886-179765886	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.707C>A; p.S236*; 5:179765717-179765717	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.707C>A; p.S236*; 5:179765717-179765717	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]