Entrez Gene

Basic Information
Gene ID	7080
Name	NKX2-1
Synonymous	NK2 homeobox 1;NKX2-1;NK2 homeobox 1
Definition	NK-2 homolog A\|homeobox protein NK-2 homolog A\|homeobox protein Nkx-2.1\|thyroid nuclear factor 1\|thyroid transcription factor 1\|thyroid-specific enhancer-binding protein
Position	14q13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.41C>A; p.S14Y; 14:36519317-36519317	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.560C>T; p.S187L; 14:36517834-36517834	central_nervous_system; brain	glioma	Substitution - Missense
c.506C>A; p.S169*; 14:36517888-36517888	central_nervous_system; brain	glioma	Substitution - Nonsense
c.274G>T; p.G92C; 14:36519084-36519084	central_nervous_system; brain	glioma	Substitution - Missense
c.152C>T; p.A51V; 14:36519206-36519206	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.996C>T; p.H332H; 14:36517398-36517398	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.330C>T; p.G110G; 14:36519028-36519028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.705C>T; p.G235G; 14:36517689-36517689	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.705C>T; p.G235G; 14:36517689-36517689	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.560C>T; p.S187L; 14:36517834-36517834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>A; p.M1K; 14:36519356-36519356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.585C>A; p.A195A; 14:36517809-36517809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.943G>A; p.A315T; 14:36517451-36517451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.254delG; p.G85fs*10; 14:36519104-36519104	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.652C>T; p.R218C; 14:36517742-36517742	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.536G>A; p.R179H; 14:36517858-36517858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.295C>T; p.P99S; 14:36519063-36519063	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1040T>C; p.L347P; 14:36517354-36517354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.143C>T; p.P48L; 14:36519215-36519215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.345C>T; p.G115G; 14:36519013-36519013	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.612G>T; p.Q204H; 14:36517782-36517782	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1103G>A; p.G368D; 14:36517291-36517291	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1103G>A; p.G368D; 14:36517291-36517291	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.603G>A; p.T201T; 14:36517791-36517791	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1090A>G; p.T364A; 14:36517304-36517304	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.593T>A; p.I198N; 14:36517801-36517801	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.627C>T; p.F209F; 14:36517767-36517767	liver	carcinoma	Substitution - coding silent
c.627C>T; p.F209F; 14:36517767-36517767	liver	carcinoma	Substitution - coding silent
c.1095G>A; p.L365L; 14:36517299-36517299	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.33C>T; p.F11F; 14:36519325-36519325	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.424G>C; p.G142R; 14:36517970-36517970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.116C>T; p.A39V; 14:36519242-36519242	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.G134S; 14:36517994-36517994	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.567G>C; p.P189P; 14:36517827-36517827	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.735G>A; p.P245P; 14:36517659-36517659	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.195C>T; p.T65T; 14:36519163-36519163	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.343G>A; p.G115S; 14:36519015-36519015	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.476C>T; p.A159V; 14:36517918-36517918	pancreas	carcinoma	Substitution - Missense
c.336A>T; p.G112G; 14:36519022-36519022	pancreas	carcinoma	Substitution - coding silent
c.1039C>A; p.L347M; 14:36517355-36517355	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.33C>A; p.F11L; 14:36519325-36519325	pancreas	carcinoma	Substitution - Missense
c.501C>T; p.L167L; 14:36517893-36517893	skin	malignant_melanoma	Substitution - coding silent
c.87G>A; p.M29I; 14:36519271-36519271	skin	malignant_melanoma	Substitution - Missense
c.275G>A; p.G92D; 14:36519083-36519083	skin	malignant_melanoma	Substitution - Missense
c.595C>T; p.H199Y; 14:36517799-36517799	skin	malignant_melanoma	Substitution - Missense
c.485_486GG>AA; p.R162K; 14:36517908-36517909	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.392C>T; p.P131L; 14:36518002-36518002	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.478C>A; p.P160T; 14:36517916-36517916	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.423C>T; p.G141G; 14:36517971-36517971	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.177G>A; p.G59G; 14:36519181-36519181	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.168C>T; p.H56H; 14:36519190-36519190	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.598C>A; p.L200M; 14:36517796-36517796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.396G>A; p.A132A; 14:36517998-36517998	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.475G>A; p.A159T; 14:36517919-36517919	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.490C>T; p.R164C; 14:36517904-36517904	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.75G>C; p.K25N; 14:36519283-36519283	thyroid	carcinoma	Substitution - Missense
c.487A>G; p.K163E; 14:36517907-36517907	thyroid	carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>C; p.F122S; 14:36518993-36518993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.632A>G; p.N211S; 14:36517762-36517762	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281T>C; p.M94T; 14:36519077-36519077	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356A>C; p.D119A; 14:36519002-36519002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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