Entrez Gene

Basic Information
Gene ID	6909
Name	TBX2
Synonymous	T-box 2;TBX2;T-box 2
Definition	T-box protein 2\|T-box transcription factor TBX2
Position	17q23.2
Gene Type	protein-coding

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

c.511C>T; p.R171C; 17:61401799-61401799	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.842T>C; p.F281S; 17:61404452-61404452	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1707C>T; p.F569F; 17:61408074-61408074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1752C>T; p.A584A; 17:61408119-61408119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1827C>T; p.S609S; 17:61408194-61408194	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.626T>C; p.L209P; 17:61401914-61401914	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.405delC; p.F138fs*17; 17:61401693-61401693	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2030C>T; p.P677L; 17:61408397-61408397	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.405delC; p.F138fs*17; 17:61401693-61401693	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.405delC; p.F138fs*17; 17:61401693-61401693	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.560A>G; p.Y187C; 17:61401848-61401848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1074G>A; p.A358A; 17:61405224-61405224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1797C>T; p.A599A; 17:61408164-61408164	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.330G>T; p.E110D; 17:61400506-61400506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1306C>T; p.R436C; 17:61405456-61405456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663C>T; p.F221F; 17:61401951-61401951	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.754A>G; p.T252A; 17:61403151-61403151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.11C>T; p.P4L; 17:61400187-61400187	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1641C>T; p.A547A; 17:61405791-61405791	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.261G>A; p.A87A; 17:61400437-61400437	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1281C>T; p.A427A; 17:61405431-61405431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2016C>T; p.R672R; 17:61408383-61408383	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.564C>A; p.I188I; 17:61401852-61401852	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1282G>T; p.E428*; 17:61405432-61405432	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.556A>G; p.M186V; 17:61401844-61401844	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.556A>G; p.M186V; 17:61401844-61401844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1640C>T; p.A547V; 17:61405790-61405790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2015G>A; p.R672H; 17:61408382-61408382	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1244G>A; p.G415D; 17:61405394-61405394	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1743A>G; p.A581A; 17:61408110-61408110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1674G>A; p.M558I; 17:61405824-61405824	liver	carcinoma	Substitution - Missense
c.1674G>A; p.M558I; 17:61405824-61405824	liver	carcinoma	Substitution - Missense
c.786C>T; p.A262A; 17:61403183-61403183	liver	carcinoma	Substitution - coding silent
c.786C>T; p.A262A; 17:61403183-61403183	liver	carcinoma	Substitution - coding silent
c.840G>A; p.P280P; 17:61404450-61404450	liver	carcinoma	Substitution - coding silent
c.1880C>A; p.P627Q; 17:61408247-61408247	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1880C>A; p.P627Q; 17:61408247-61408247	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1798G>T; p.A600S; 17:61408165-61408165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.960A>T; p.S320S; 17:61404678-61404678	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406C>T; p.A469V; 17:61405556-61405556	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2116C>A; p.P706T; 17:61408483-61408483	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.850G>T; p.G284C; 17:61404460-61404460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1701C>T; p.P567P; 17:61408068-61408068	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.774C>A; p.T258T; 17:61403171-61403171	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.905C>A; p.P302Q; 17:61404623-61404623	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.868A>T; p.N290Y; 17:61404478-61404478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1605C>A; p.G535G; 17:61405755-61405755	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1751C>T; p.A584V; 17:61408118-61408118	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.405delC; p.F138fs*17; 17:61401693-61401693	NS	malignant_melanoma	Deletion - Frameshift
c.2065C>G; p.Q689E; 17:61408432-61408432	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1944C>T; p.A648A; 17:61408311-61408311	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.717C>T; p.A239A; 17:61403114-61403114	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1074G>A; p.A358A; 17:61405224-61405224	pancreas	carcinoma	Substitution - coding silent
c.751C>T; p.R251C; 17:61403148-61403148	pancreas	carcinoma	Substitution - Missense
c.1237G>A; p.G413R; 17:61405387-61405387	pancreas	carcinoma	Substitution - Missense
c.645C>A; p.I215I; 17:61401933-61401933	pancreas	carcinoma	Substitution - coding silent
c.1850C>T; p.P617L; 17:61408217-61408217	skin	malignant_melanoma	Substitution - Missense
c.1919G>A; p.G640E; 17:61408286-61408286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.484G>A; p.D162N; 17:61401772-61401772	skin	malignant_melanoma	Substitution - Missense
c.910C>T; p.L304L; 17:61404628-61404628	skin	malignant_melanoma	Substitution - coding silent
c.1828C>T; p.P610S; 17:61408195-61408195	skin	malignant_melanoma	Substitution - Missense
c.1761C>T; p.A587A; 17:61408128-61408128	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1988C>T; p.A663V; 17:61408355-61408355	skin	malignant_melanoma	Substitution - Missense
c.760G>T; p.V254L; 17:61403157-61403157	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.406C>T; p.P136S; 17:61401694-61401694	skin	malignant_melanoma	Substitution - Missense
c.1820C>T; p.S607F; 17:61408187-61408187	skin	malignant_melanoma	Substitution - Missense
c.1008C>T; p.S336S; 17:61404726-61404726	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1426G>A; p.G476R; 17:61405576-61405576	skin	malignant_melanoma	Substitution - Missense
c.398G>A; p.R133Q; 17:61401686-61401686	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.410C>T; p.P137L; 17:61401698-61401698	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1770_1771insC; p.A592fs*3; 17:61408137-61408138	skin	malignant_melanoma	Insertion - Frameshift
c.1823G>A; p.R608Q; 17:61408190-61408190	skin	malignant_melanoma	Substitution - Missense
c.1815C>T; p.S605S; 17:61408182-61408182	skin	malignant_melanoma	Substitution - coding silent
c.405_406insC; p.F138fs*24; 17:61401693-61401694	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.887+2T>C; p.?; 17:61404499-61404499	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.694C>T; p.P232S; 17:61403091-61403091	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.623A>G; p.K208R; 17:61401911-61401911	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1344G>A; p.A448A; 17:61405494-61405494	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1343C>T; p.A448V; 17:61405493-61405493	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.652A>G; p.K218E; 17:61401940-61401940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.645C>T; p.I215I; 17:61401933-61401933	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.710T>A; p.V237E; 17:61403107-61403107	thyroid	other; neoplasm	Substitution - Missense
c.1212G>C; p.R404S; 17:61405362-61405362	thyroid	other; neoplasm	Substitution - Missense
c.1210A>C; p.R404R; 17:61405360-61405360	thyroid	other; neoplasm	Substitution - coding silent
c.1827C>T; p.S609S; 17:61408194-61408194	thyroid	other; neoplasm	Substitution - coding silent
c.1241A>G; p.D414G; 17:61405391-61405391	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.575G>T; p.S192I; 17:61401863-61401863	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.575G>T; p.S192I; 17:61401863-61401863	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.575G>T; p.S192I; 17:61401863-61401863	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.393G>A; p.G131G; 17:61400569-61400569	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.541G>A; p.E181K; 17:61401829-61401829	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1093G>C; p.E365Q; 17:61405243-61405243	urinary_tract; bladder	carcinoma	Substitution - Missense
c.722A>G; p.D241G; 17:61403119-61403119	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

Bioinformatics and cancer genomics links

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