Entrez Gene

Basic Information
Gene ID	9138
Name	ARHGEF1
Synonymous	Rho guanine nucleotide exchange factor (GEF) 1;ARHGEF1;Rho guanine nucleotide exchange factor (GEF) 1
Definition	115 kDa guanine nucleotide exchange factor\|115-kD protein\|Lsc homolog\|p115RhoGEF\|rho guanine nucleotide exchange factor 1
Position	19q13.13
Gene Type	protein-coding

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

c.1009C>T; p.P337S; 19:41895435-41895435	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1783+1G>A; p.?; 19:41902899-41902899	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.1339G>A; p.V447M; 19:41901913-41901913	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2700+2T>C; p.?; 19:41906622-41906622	breast	carcinoma	Unknown
c.604G>T; p.E202*; 19:41892794-41892794	breast	carcinoma	Substitution - Nonsense
c.2519C>T; p.A840V; 19:41906008-41906008	breast	carcinoma	Substitution - Missense
c.2331G>A; p.L777L; 19:41905211-41905211	breast	carcinoma	Substitution - coding silent
c.151G>C; p.E51Q; 19:41888273-41888273	breast	carcinoma	Substitution - Missense
c.139G>C; p.E47Q; 19:41888261-41888261	breast	carcinoma	Substitution - Missense
c.95G>A; p.G32D; 19:41888217-41888217	breast	carcinoma	Substitution - Missense
c.994C>T; p.P332S; 19:41895420-41895420	breast	carcinoma	Substitution - Missense
c.2575G>T; p.D859Y; 19:41906495-41906495	breast	carcinoma	Substitution - Missense
c.298G>T; p.G100C; 19:41892052-41892052	breast	carcinoma	Substitution - Missense
c.368C>T; p.A123V; 19:41892122-41892122	breast	carcinoma	Substitution - Missense
c.810G>A; p.S270S; 19:41894471-41894471	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.354C>T; p.F118F; 19:41892108-41892108	central_nervous_system; brain	glioma	Substitution - coding silent
c.1505A>T; p.Y502F; 19:41902319-41902319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2222A>G; p.Y741C; 19:41904964-41904964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.415C>T; p.R139C; 19:41892605-41892605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.415C>T; p.R139C; 19:41892605-41892605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.415C>T; p.R139C; 19:41892605-41892605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416G>A; p.R139H; 19:41892606-41892606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1240C>T; p.R414W; 19:41898515-41898515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450G>A; p.E484K; 19:41902024-41902024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.695C>T; p.A232V; 19:41894212-41894212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.764C>T; p.S255L; 19:41894281-41894281	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.471G>A; p.V157V; 19:41892661-41892661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.400G>A; p.A134T; 19:41892361-41892361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2619G>T; p.G873G; 19:41906539-41906539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.543G>A; p.T181T; 19:41892733-41892733	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.57C>T; p.F19F; 19:41888094-41888094	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.958G>A; p.V320M; 19:41895384-41895384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.979C>T; p.R327W; 19:41895405-41895405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2298G>T; p.W766C; 19:41905178-41905178	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.586C>T; p.R196W; 19:41892776-41892776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2376G>A; p.P792P; 19:41905256-41905256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.724C>T; p.R242C; 19:41894241-41894241	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2492G>A; p.R831K; 19:41905981-41905981	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.947G>A; p.R316Q; 19:41895373-41895373	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2170C>T; p.R724W; 19:41904347-41904347	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1987T>G; p.L663V; 19:41904059-41904059	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2617delG; p.G874fs*4; 19:41906537-41906537	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.382C>T; p.P128S; 19:41892343-41892343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2631G>A; p.L877L; 19:41906551-41906551	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.289G>A; p.D97N; 19:41892043-41892043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.V165M; 19:41892683-41892683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.724C>T; p.R242C; 19:41894241-41894241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.454C>T; p.R152W; 19:41892644-41892644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1168C>A; p.P390T; 19:41898443-41898443	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1907G>A; p.R636H; 19:41903729-41903729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.481C>T; p.Q161*; 19:41892671-41892671	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.117C>A; p.I39I; 19:41888239-41888239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2484C>A; p.P828P; 19:41905973-41905973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1527C>T; p.D509D; 19:41902341-41902341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.739C>T; p.R247W; 19:41894256-41894256	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.739C>T; p.R247W; 19:41894256-41894256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2415C>T; p.N805N; 19:41905793-41905793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1070delC; p.L359fs*12; 19:41896386-41896386	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1070delC; p.L359fs*12; 19:41896386-41896386	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1070delC; p.L359fs*12; 19:41896386-41896386	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1070delC; p.L359fs*12; 19:41896386-41896386	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.144C>G; p.N48K; 19:41888266-41888266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2389G>T; p.E797*; 19:41905767-41905767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1693C>T; p.R565C; 19:41902808-41902808	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1129C>T; p.P377S; 19:41896445-41896445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1474C>T; p.R492C; 19:41902288-41902288	large_intestine; colon	carcinoma	Substitution - Missense
c.1474C>T; p.R492C; 19:41902288-41902288	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1066G>A; p.D356N; 19:41896382-41896382	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1254C>T; p.P418P; 19:41898529-41898529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.209G>A; p.R70H; 19:41888804-41888804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>A; p.V555M; 19:41902653-41902653	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1361A>G; p.H454R; 19:41901935-41901935	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1601A>C; p.Q534P; 19:41902591-41902591	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1601A>C; p.Q534P; 19:41902591-41902591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.207G>A; p.R69R; 19:41888802-41888802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.205C>T; p.R69W; 19:41888800-41888800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1832G>A; p.R611Q; 19:41903355-41903355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>A; p.V510M; 19:41902342-41902342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1694G>A; p.R565H; 19:41902809-41902809	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2457C>T; p.T819T; 19:41905946-41905946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1735C>T; p.R579W; 19:41902850-41902850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.710T>C; p.I237T; 19:41894227-41894227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2769G>A; p.Q923Q; 19:41906771-41906771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261A>G; p.P87P; 19:41888856-41888856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.376C>T; p.R126W; 19:41892337-41892337	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1399T>G; p.F467V; 19:41901973-41901973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.979C>T; p.R327W; 19:41895405-41895405	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.995C>A; p.P332H; 19:41895421-41895421	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.739C>A; p.R247R; 19:41894256-41894256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1139G>A; p.S380N; 19:41896455-41896455	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1247T>G; p.L416R; 19:41898522-41898522	liver	carcinoma	Substitution - Missense
c.1247T>G; p.L416R; 19:41898522-41898522	liver	carcinoma	Substitution - Missense
c.326A>G; p.K109R; 19:41892080-41892080	liver	carcinoma	Substitution - Missense
c.326A>G; p.K109R; 19:41892080-41892080	liver	carcinoma	Substitution - Missense
c.383C>T; p.P128L; 19:41892344-41892344	liver	carcinoma	Substitution - Missense
c.2294A>T; p.N765I; 19:41905036-41905036	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2579A>G; p.N860S; 19:41906499-41906499	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887-10C>T; p.?; 19:41894616-41894616	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1047A>T; p.P349P; 19:41895473-41895473	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.624G>T; p.V208V; 19:41892814-41892814	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1950G>T; p.L650L; 19:41903772-41903772	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.255_256insT; p.E86fs*1; 19:41888850-41888851	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2622C>A; p.G874G; 19:41906542-41906542	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.890C>T; p.P297L; 19:41894629-41894629	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.64G>T; p.G22W; 19:41888101-41888101	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.369+7G>A; p.?; 19:41892130-41892130	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.110G>T; p.S37I; 19:41888232-41888232	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.370-2A>C; p.?; 19:41892329-41892329	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1287G>C; p.Q429H; 19:41898562-41898562	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.872G>A; p.R291Q; 19:41894533-41894533	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1557G>T; p.E519D; 19:41902547-41902547	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1168C>T; p.P390S; 19:41898443-41898443	oesophagus	carcinoma	Substitution - Missense
c.62G>A; p.R21Q; 19:41888099-41888099	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.415C>G; p.R139G; 19:41892605-41892605	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.682G>C; p.E228Q; 19:41893296-41893296	ovary	other; neoplasm	Substitution - Missense
c.7T>A; p.S3T; 19:41884474-41884474	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.139G>C; p.E47Q; 19:41888261-41888261	ovary	other; neoplasm	Substitution - Missense
c.139G>C; p.E47Q; 19:41888261-41888261	ovary	other; neoplasm	Substitution - Missense
c.740G>A; p.R247Q; 19:41894257-41894257	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2436G>A; p.T812T; 19:41905814-41905814	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.226G>A; p.A76T; 19:41888821-41888821	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2311A>C; p.T771P; 19:41905191-41905191	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1918T>C; p.S640P; 19:41903740-41903740	pancreas	carcinoma	Substitution - Missense
c.2784A>T; p.*928C; 19:41906786-41906786	prostate	carcinoma; adenocarcinoma	Nonstop extension
c.1983G>T; p.K661N; 19:41904055-41904055	prostate	carcinoma	Substitution - Missense
c.765G>A; p.S255S; 19:41894282-41894282	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.496_497GG>AA; p.G166N; 19:41892686-41892687	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2450-3C>T; p.?; 19:41905936-41905936	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2428C>T; p.R810*; 19:41905806-41905806	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.530T>C; p.L177P; 19:41892720-41892720	skin	malignant_melanoma	Substitution - Missense
c.1558G>A; p.G520S; 19:41902548-41902548	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.389C>T; p.P130L; 19:41892350-41892350	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.459C>T; p.F153F; 19:41892649-41892649	skin	malignant_melanoma	Substitution - coding silent
c.2635_2636CC>TT; p.P879L; 19:41906555-41906556	skin; acral	malignant_melanoma	Substitution - Missense
c.1354G>A; p.V452M; 19:41901928-41901928	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2362C>T; p.P788S; 19:41905242-41905242	skin; extremity	malignant_melanoma	Substitution - Missense
c.2566G>A; p.A856T; 19:41906486-41906486	skin; extremity	malignant_melanoma	Substitution - Missense
c.1756C>T; p.L586F; 19:41902871-41902871	skin; extremity	malignant_melanoma	Substitution - Missense
c.1019C>T; p.S340F; 19:41895445-41895445	skin	malignant_melanoma	Substitution - Missense
c.372T>G; p.V124V; 19:41892333-41892333	skin	malignant_melanoma	Substitution - coding silent
c.2765_2766CC>TT; p.P922L; 19:41906767-41906768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2593C>T; p.P865S; 19:41906513-41906513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1253C>T; p.P418L; 19:41898528-41898528	skin	malignant_melanoma	Substitution - Missense
c.789+2T>G; p.?; 19:41894308-41894308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1890C>T; p.L630L; 19:41903712-41903712	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1232_1233CC>TT; p.P411L; 19:41898507-41898508	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.780C>T; p.F260F; 19:41894297-41894297	skin	malignant_melanoma	Substitution - coding silent
c.227C>T; p.A76V; 19:41888822-41888822	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.P28L; 19:41888205-41888205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.P28L; 19:41888205-41888205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.117C>T; p.I39I; 19:41888239-41888239	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.375C>T; p.L125L; 19:41892336-41892336	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.295C>T; p.L99L; 19:41892049-41892049	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1685C>T; p.P562L; 19:41902800-41902800	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2354G>A; p.R785H; 19:41905234-41905234	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1070delC; p.L359fs*12; 19:41896386-41896386	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.512A>G; p.D171G; 19:41892702-41892702	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>T; p.A274S; 19:41894481-41894481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>A; p.V555M; 19:41902653-41902653	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1338C>T; p.H446H; 19:41901912-41901912	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1289T>C; p.V430A; 19:41898564-41898564	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1795G>A; p.E599K; 19:41903318-41903318	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2567C>T; p.A856V; 19:41906487-41906487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>A; p.E227K; 19:41893293-41893293	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1534C>T; p.L512L; 19:41902348-41902348	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.27-5T>C; p.?; 19:41888059-41888059	stomach	carcinoma; adenocarcinoma	Unknown
c.970T>C; p.S324P; 19:41895396-41895396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.397G>A; p.V133I; 19:41892358-41892358	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1021C>T; p.L341L; 19:41895447-41895447	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1786G>A; p.E596K; 19:41903309-41903309	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2503G>A; p.E835K; 19:41905992-41905992	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2458G>A; p.E820K; 19:41905947-41905947	urinary_tract; bladder	carcinoma	Substitution - Missense
c.973C>T; p.R325W; 19:41895399-41895399	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1764G>C; p.Q588H; 19:41902879-41902879	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1764G>C; p.Q588H; 19:41902879-41902879	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2629C>G; p.L877V; 19:41906549-41906549	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2629C>G; p.L877V; 19:41906549-41906549	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.62G>C; p.R21P; 19:41888099-41888099	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2572G>A; p.E858K; 19:41906492-41906492	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1278C>G; p.P426P; 19:41898553-41898553	urinary_tract; bladder	carcinoma	Substitution - coding silent

Oncogene database

COSMIC confirmed somatic mutation [Top]

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