Entrez Gene

Basic Information
Gene ID	1729
Name	DIAPH1
Synonymous	diaphanous-related formin 1;DIAPH1;diaphanous-related formin 1
Definition	diaphanous homolog 1\|diaphanous-related formin-1\|protein diaphanous homolog 1
Position	5q31
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3655C>T; p.R1219C; 5:141524149-141524149	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3301T>C; p.Y1101H; 5:141526434-141526434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.341G>T; p.R114M; 5:141584185-141584185	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1618G>C; p.E540Q; 5:141574990-141574990	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.728T>C; p.L243P; 5:141580840-141580840	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1857T>C; p.P619P; 5:141573993-141573993	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2773G>A; p.V925M; 5:141529177-141529177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3663C>A; p.A1221A; 5:141517007-141517007	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2773G>A; p.V925M; 5:141529177-141529177	central_nervous_system; brain	glioma	Substitution - Missense
c.2365G>A; p.A789T; 5:141572034-141572034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1793C>T; p.P598L; 5:141574057-141574057	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.963C>T; p.L321L; 5:141578596-141578596	breast	carcinoma	Substitution - coding silent
c.934G>A; p.V312I; 5:141578625-141578625	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.V312I; 5:141578625-141578625	large_intestine; colon	carcinoma	Substitution - Missense
c.934G>A; p.V312I; 5:141578625-141578625	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2296G>A; p.G766R; 5:141573554-141573554	skin	malignant_melanoma	Substitution - Missense
c.536G>T; p.W179L; 5:141583290-141583290	skin	malignant_melanoma	Substitution - Missense
c.3425G>A; p.R1142Q; 5:141526310-141526310	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3566T>C; p.M1189T; 5:141526046-141526046	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2550G>C; p.K850N; 5:141534366-141534366	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2014G>T; p.G672C; 5:141573836-141573836	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1042C>T; p.Q348*; 5:141578517-141578517	kidney	other; neoplasm	Substitution - Nonsense
c.2014G>T; p.G672C; 5:141573836-141573836	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3149-2_3149-1delAG; p.?; 5:141527698-141527699	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.178G>A; p.E60K; 5:141587164-141587164	skin	malignant_melanoma	Substitution - Missense
c.2118C>T; p.P706P; 5:141573732-141573732	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2062C>T; p.P688S; 5:141573788-141573788	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1384G>C; p.E462Q; 5:141576768-141576768	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1462-2A>T; p.?; 5:141575148-141575148	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.648G>T; p.E216D; 5:141582348-141582348	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.648G>T; p.E216D; 5:141582348-141582348	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2901A>C; p.L967F; 5:141528819-141528819	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1076G>T; p.R359I; 5:141578312-141578312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.501C>T; p.S167S; 5:141583517-141583517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3210A>G; p.E1070E; 5:141527636-141527636	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3579C>T; p.G1193G; 5:141524225-141524225	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.493C>T; p.L165L; 5:141583525-141583525	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3018G>A; p.K1006K; 5:141528702-141528702	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2218C>G; p.P740A; 5:141573632-141573632	breast	carcinoma	Substitution - Missense
c.1410T>C; p.D470D; 5:141576281-141576281	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1729C>T; p.P577S; 5:141574121-141574121	kidney	other; neoplasm	Substitution - Missense
c.3140C>G; p.A1047G; 5:141528461-141528461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1002C>T; p.I334I; 5:141578557-141578557	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2178C>T; p.I726I; 5:141573672-141573672	skin	malignant_melanoma	Substitution - coding silent
c.582T>A; p.I194I; 5:141583244-141583244	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3437_3438insT; p.L1146fs*50; 5:141526297-141526298	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3117C>T; p.D1039D; 5:141528484-141528484	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2966C>T; p.A989V; 5:141528754-141528754	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1849C>T; p.P617S; 5:141574001-141574001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1935G>A; p.L645L; 5:141573915-141573915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3171G>T; p.K1057N; 5:141527675-141527675	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.791C>G; p.S264C; 5:141580777-141580777	urinary_tract; bladder	carcinoma	Substitution - Missense
c.607G>T; p.E203*; 5:141583219-141583219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.113A>C; p.K38T; 5:141618802-141618802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3633A>G; p.A1211A; 5:141524171-141524171	skin	malignant_melanoma	Substitution - coding silent
c.791C>T; p.S264F; 5:141580777-141580777	breast	carcinoma	Substitution - Missense
c.1339G>A; p.G447R; 5:141576813-141576813	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1339G>A; p.G447R; 5:141576813-141576813	large_intestine; colon	carcinoma	Substitution - Missense
c.770T>G; p.I257S; 5:141580798-141580798	breast	carcinoma	Substitution - Missense
c.2308A>C; p.K770Q; 5:141573542-141573542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308A>C; p.K770Q; 5:141573542-141573542	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2109_2110insC; p.P705fs*70; 5:141573740-141573741	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2199C>T; p.P733P; 5:141573651-141573651	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1904G>T; p.G635V; 5:141573946-141573946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2912A>T; p.E971V; 5:141528808-141528808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.862G>C; p.E288Q; 5:141579159-141579159	central_nervous_system; brain	glioma	Substitution - Missense
c.974C>T; p.A325V; 5:141578585-141578585	pancreas	carcinoma	Substitution - Missense
c.1596A>G; p.T532T; 5:141575012-141575012	kidney	other; neoplasm	Substitution - coding silent
c.974C>T; p.A325V; 5:141578585-141578585	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3148+1G>A; p.?; 5:141528452-141528452	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1018C>T; p.R340C; 5:141578541-141578541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2743G>A; p.D915N; 5:141529207-141529207	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2743G>A; p.D915N; 5:141529207-141529207	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1018C>T; p.R340C; 5:141578541-141578541	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2656C>T; p.L886L; 5:141529623-141529623	skin	malignant_melanoma	Substitution - coding silent
c.2801G>A; p.R934Q; 5:141528919-141528919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1854A>T; p.P618P; 5:141573996-141573996	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3096C>T; p.P1032P; 5:141528505-141528505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1854A>T; p.P618P; 5:141573996-141573996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2801G>A; p.R934Q; 5:141528919-141528919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1854A>T; p.P618P; 5:141573996-141573996	liver	carcinoma	Substitution - coding silent
c.2030delC; p.P677fs*91; 5:141573820-141573820	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2225C>T; p.P742L; 5:141573625-141573625	skin	malignant_melanoma	Substitution - Missense
c.2055T>C; p.A685A; 5:141573795-141573795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3096C>G; p.P1032P; 5:141528505-141528505	thyroid	carcinoma	Substitution - coding silent
c.1432G>A; p.E478K; 5:141576259-141576259	skin	malignant_melanoma	Substitution - Missense
c.3579C>G; p.G1193G; 5:141524225-141524225	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.810G>A; p.P270P; 5:141580758-141580758	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.787C>T; p.L263F; 5:141580781-141580781	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1626C>A; p.S542S; 5:141574982-141574982	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.985G>C; p.D329H; 5:141578574-141578574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.283C>G; p.L95V; 5:141587059-141587059	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3682G>A; p.A1228T; 5:141516988-141516988	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2436C>T; p.F812F; 5:141571963-141571963	skin	malignant_melanoma	Substitution - coding silent
c.1854_1856delACC; p.P620delP; 5:141573994-141573996	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Deletion - In frame
c.3592G>T; p.V1198L; 5:141524212-141524212	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.737G>A; p.R246K; 5:141580831-141580831	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.2514G>T; p.K838N; 5:141534402-141534402	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2591delT; p.L864fs*18; 5:141529688-141529688	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.422G>T; p.S141I; 5:141583596-141583596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2017delA; p.T673fs*95; 5:141573833-141573833	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1414A>G; p.T472A; 5:141576277-141576277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.807A>C; p.L269L; 5:141580761-141580761	breast	carcinoma	Substitution - coding silent
c.516C>A; p.L172L; 5:141583502-141583502	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1753G>C; p.A585P; 5:141574097-141574097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1589T>G; p.I530S; 5:141575019-141575019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1041G>T; p.L347F; 5:141578518-141578518	kidney	other; neoplasm	Substitution - Missense
c.2358+2T>C; p.?; 5:141573490-141573490	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1966C>A; p.P656T; 5:141573884-141573884	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2113C>T; p.P705S; 5:141573737-141573737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.512C>T; p.S171F; 5:141583506-141583506	breast	carcinoma	Substitution - Missense
c.1262G>A; p.R421Q; 5:141577493-141577493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3352C>T; p.L1118L; 5:141526383-141526383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2597C>T; p.S866F; 5:141529682-141529682	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.2795G>A; p.R932Q; 5:141528925-141528925	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590G>A; p.R197Q; 5:141583236-141583236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1851_1853delTCC; p.P620delP; 5:141573997-141573999	breast	carcinoma	Deletion - In frame
c.1851_1853delTCC; p.P620delP; 5:141573997-141573999	breast	carcinoma	Deletion - In frame
c.1364G>A; p.R455Q; 5:141576788-141576788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3491G>A; p.R1164Q; 5:141526121-141526121	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.687T>C; p.F229F; 5:141580881-141580881	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.729G>T; p.L243L; 5:141580839-141580839	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1504A>G; p.M502V; 5:141575104-141575104	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.825-1G>T; p.?; 5:141579197-141579197	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2067_2104del38; p.P691fs*71; 5:141573746-141573783	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1045-4A>T; p.?; 5:141578347-141578347	breast	carcinoma	Unknown
c.3266A>C; p.K1089T; 5:141527580-141527580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1281-1G>C; p.?; 5:141576872-141576872	ovary	carcinoma; serous_carcinoma	Unknown
c.655C>T; p.R219C; 5:141582341-141582341	skin	malignant_melanoma	Substitution - Missense
c.2792C>A; p.P931H; 5:141528928-141528928	liver	carcinoma	Substitution - Missense
c.2792C>A; p.P931H; 5:141528928-141528928	liver	carcinoma	Substitution - Missense
c.617C>T; p.A206V; 5:141583209-141583209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.P297L; 5:141579131-141579131	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.P297L; 5:141579131-141579131	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680A>G; p.N227S; 5:141582316-141582316	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.469C>T; p.R157W; 5:141583549-141583549	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1697C>T; p.S566F; 5:141574153-141574153	skin	malignant_melanoma	Substitution - Missense
c.1815T>C; p.S605S; 5:141574035-141574035	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1815T>C; p.S605S; 5:141574035-141574035	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2763G>C; p.E921D; 5:141529187-141529187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1853_1854insTCC; p.P620_L621insP; 5:141573996-141573997	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.2031delA; p.P678fs*90; 5:141573819-141573819	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.576G>T; p.L192F; 5:141583250-141583250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2414G>A; p.R805H; 5:141571985-141571985	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1819_1821delACT; p.T607delT; 5:141574029-141574031	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.788T>A; p.L263H; 5:141580780-141580780	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.476T>C; p.M159T; 5:141583542-141583542	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2454C>T; p.T818T; 5:141571945-141571945	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3149-11_3149-3delTTTTTTTTT; p.?; 5:141527700-141527708	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2245C>T; p.P749S; 5:141573605-141573605	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1609C>T; p.L537L; 5:141574999-141574999	skin	malignant_melanoma	Substitution - coding silent
c.2799G>A; p.L933L; 5:141528921-141528921	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2108delC; p.P703fs*65; 5:141573742-141573742	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2108delC; p.P703fs*65; 5:141573742-141573742	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2108delC; p.P703fs*65; 5:141573742-141573742	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2108delC; p.P703fs*65; 5:141573742-141573742	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift

COSMIC somatic mutation [Top]