Entrez Gene

Basic Information
Gene ID	2627
Name	GATA6
Synonymous	GATA binding protein 6;GATA6;GATA binding protein 6
Definition	GATA-binding factor 6\|transcription factor GATA-6
Position	18q11.1-q11.2
Gene Type	protein-coding

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

c.1777G>A; p.A593T; 18:22200812-22200812	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; cortisol_producing	Substitution - Missense
c.1308A>G; p.S436S; 18:22181458-22181458	breast	carcinoma	Substitution - coding silent
c.428A>G; p.Q143R; 18:22171572-22171572	central_nervous_system; brain	glioma	Substitution - Missense
c.1478G>A; p.R493Q; 18:22182806-22182806	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1478G>A; p.R493Q; 18:22182806-22182806	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.209C>A; p.A70E; 18:22171353-22171353	central_nervous_system; brain	glioma	Substitution - Missense
c.267G>T; p.G89G; 18:22171411-22171411	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.442T>A; p.Y148N; 18:22171586-22171586	central_nervous_system; brain	glioma	Substitution - Missense
c.1313G>A; p.R438Q; 18:22181463-22181463	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1587T>A; p.N529K; 18:22183010-22183010	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1587T>A; p.N529K; 18:22183010-22183010	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1367G>A; p.R456H; 18:22181517-22181517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1512C>A; p.C504*; 18:22182840-22182840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1478G>A; p.R493Q; 18:22182806-22182806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1735G>A; p.E579K; 18:22200770-22200770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1646C>T; p.A549V; 18:22200681-22200681	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.456C>A; p.A152A; 18:22171600-22171600	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1620+7A>G; p.?; 18:22183050-22183050	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1620+7A>G; p.?; 18:22183050-22183050	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1620+7A>G; p.?; 18:22183050-22183050	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1767G>T; p.W589C; 18:22200802-22200802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1767G>T; p.W589C; 18:22200802-22200802	large_intestine; colon	carcinoma	Substitution - Missense
c.1367G>A; p.R456H; 18:22181517-22181517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.T537A; 18:22183032-22183032	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.T537A; 18:22183032-22183032	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1450_1451delAA; p.K485fs*11; 18:22182778-22182779	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1428+2T>C; p.?; 18:22181580-22181580	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1360T>G; p.L454V; 18:22181510-22181510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1449G>A; p.M483I; 18:22182777-22182777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.968_970delACC; p.H333delH; 18:22172112-22172114	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.369C>T; p.T123T; 18:22171513-22171513	large_intestine; colon	adenoma	Substitution - coding silent
c.270_271insC; p.H92fs*26; 18:22171414-22171415	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.48C>T; p.A16A; 18:22171192-22171192	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1502_1503insA; p.T503fs*5; 18:22182830-22182831	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1312C>T; p.R438W; 18:22181462-22181462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1366C>T; p.R456C; 18:22181516-22181516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1362A>G; p.L454L; 18:22181512-22181512	liver	carcinoma	Substitution - coding silent
c.1362A>G; p.L454L; 18:22181512-22181512	liver	carcinoma	Substitution - coding silent
c.814G>T; p.A272S; 18:22171958-22171958	liver	carcinoma	Substitution - Missense
c.814G>T; p.A272S; 18:22171958-22171958	liver	carcinoma	Substitution - Missense
c.1787G>C; p.*596S; 18:22200822-22200822	lung	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.1547C>T; p.P516L; 18:22182970-22182970	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1406G>A; p.G469E; 18:22181556-22181556	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.47C>A; p.A16D; 18:22171191-22171191	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>T; p.M1I; 18:22171147-22171147	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1620+6T>C; p.?; 18:22183049-22183049	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1734C>T; p.A578A; 18:22200769-22200769	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.186G>T; p.T62T; 18:22171330-22171330	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.472G>A; p.G158S; 18:22171616-22171616	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1585A>C; p.N529H; 18:22183008-22183008	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1733C>T; p.A578V; 18:22200768-22200768	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.170C>A; p.A57D; 18:22171314-22171314	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>C; p.A122A; 18:22171510-22171510	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1358_1359CC>TT; p.T453>?; 18:22181508-22181509	NS	malignant_melanoma	Complex
c.1200G>A; p.L400L; 18:22177019-22177019	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.885C>T; p.G295G; 18:22172029-22172029	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1688C>T; p.S563L; 18:22200723-22200723	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1448T>C; p.M483T; 18:22182776-22182776	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.238C>T; p.L80F; 18:22171382-22171382	pancreas	carcinoma	Substitution - Missense
c.326G>C; p.W109S; 18:22171470-22171470	pancreas	carcinoma	Substitution - Missense
c.962G>A; p.G321E; 18:22172106-22172106	pancreas	carcinoma	Substitution - Missense
c.1360T>G; p.L454V; 18:22181510-22181510	pancreas	carcinoma	Substitution - Missense
c.389C>G; p.S130C; 18:22171533-22171533	pancreas	carcinoma	Substitution - Missense
c.134C>G; p.S45C; 18:22171278-22171278	pancreas	carcinoma	Substitution - Missense
c.352C>T; p.L118F; 18:22171496-22171496	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1665C>A; p.P555P; 18:22200700-22200700	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516+4A>G; p.?; 18:22182848-22182848	prostate	carcinoma	Unknown
c.107C>T; p.P36L; 18:22171251-22171251	skin	malignant_melanoma	Substitution - Missense
c.1592C>A; p.S531Y; 18:22183015-22183015	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1618G>A; p.G540R; 18:22183041-22183041	skin	malignant_melanoma	Substitution - Missense
c.1293G>A; p.Q431Q; 18:22177112-22177112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1449G>A; p.M483I; 18:22182777-22182777	skin	malignant_melanoma	Substitution - Missense
c.1663C>T; p.P555S; 18:22200698-22200698	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1749C>T; p.S583S; 18:22200784-22200784	skin	malignant_melanoma	Substitution - coding silent
c.1440A>G; p.P480P; 18:22182768-22182768	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.968_970delACC; p.H333delH; 18:22172112-22172114	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.343T>C; p.F115L; 18:22171487-22171487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1507A>T; p.T503S; 18:22182835-22182835	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1675G>C; p.E559Q; 18:22200710-22200710	thyroid	carcinoma	Substitution - Missense
c.1535T>C; p.I512T; 18:22182958-22182958	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1535T>C; p.I512T; 18:22182958-22182958	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1616C>G; p.S539*; 18:22183039-22183039	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1616C>G; p.S539*; 18:22183039-22183039	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1748C>A; p.S583Y; 18:22200783-22200783	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1559C>G; p.S520C; 18:22182982-22182982	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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