ARFGEF2

ARF guanine nucleotide exchange factor 2

Summary

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]

Known Variants640 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6019531	20:47,538,097	A/G	—	benign
rs555109906	20:47,538,235	G/A	—	likely benign
rs2273101	20:47,538,333	C/T	—	benign
rs886056751	20:47,538,359	C/A	—	uncertain significance
rs562458873	20:47,538,367	C/T	—	uncertain significance
rs370864802	20:47,538,384	G/A	—	conflicting classifications of pathogenicity
rs376690099	20:47,538,388	C/T	—	conflicting classifications of pathogenicity
rs550163684	20:47,538,400	G/A	—	likely benign
rs559835122	20:47,538,402	C/T	—	likely benign
rs375056092	20:47,538,422	G/A	—	uncertain significance
rs930880468	20:47,538,465	G/A	—	likely benign
rs760130632	20:47,538,474	G/A	—	conflicting classifications of pathogenicity
rs1413610451	20:47,538,477	G/A	—	likely benign
rs587780282	20:47,538,505	C/T	—	uncertain significance
rs368957600	20:47,538,507	C/G	—	benign
rs2515997041	20:47,538,517	C/T	—	likely pathogenic
rs906585026	20:47,538,529	G/A	—	uncertain significance
rs2515997107	20:47,538,534	C/T	—	likely benign
rs1368417576	20:47,538,546	C/A	—	uncertain significance
rs1352358820	20:47,538,559	G/A	—	likely benign
rs144094432	20:47,538,754	C/T	—	likely benign
rs6019535	20:47,541,517	G/A	intron variant	—
rs6012564	20:47,541,600	G/A	intron variant	—
rs6019537	20:47,543,604	G/A	regulatory region variant	—
rs189331311	20:47,552,467	G/A	—	—
rs147145199	20:47,554,303	C/T	intron variant	—
rs11906450	20:47,555,082	A/G	intron variant	—
rs111812544	20:47,558,369	C/A	—	likely benign
rs752767518	20:47,558,384	T/C	—	likely benign
rs2516026388	20:47,558,402	C/T	—	uncertain significance
rs374268118	20:47,558,406	G/T	—	uncertain significance
rs140568421	20:47,558,416	A/G	—	likely benign
rs73113975	20:47,558,417	C/T	—	conflicting classifications of pathogenicity
rs149471454	20:47,558,420	C/T	—	uncertain significance
rs754961991	20:47,558,426	G/A	—	uncertain significance
rs747639378	20:47,558,435	A/G	—	uncertain significance
rs201168593	20:47,558,436	T/C	—	uncertain significance
rs2090995560	20:47,558,490	C/A	—	no classification for the single variant
rs764293660	20:47,558,508	C/G	—	uncertain significance
rs1427216608	20:47,558,530	A/G	—	uncertain significance
rs73264224	20:47,558,623	T/A	—	likely benign
rs73264225	20:47,558,630	G/A	—	likely benign
rs73264237	20:47,567,739	C/A	—	benign
rs146249124	20:47,567,790	G/C	—	likely benign
rs73113981	20:47,567,801	C/T	—	benign
rs1555808172	20:47,567,867	T/C	—	uncertain significance
rs767399617	20:47,567,868	C/T	—	likely benign
rs752428295	20:47,567,874	C/T	—	likely benign
rs757983752	20:47,567,904	T/C	—	likely benign
rs1600602993	20:47,567,913	T/G	—	likely benign
rs1284398539	20:47,567,918	A/G	—	uncertain significance
rs143956045	20:47,567,921	G/A	—	uncertain significance
rs2295029	20:47,568,009	A/G	—	likely benign
rs2295030	20:47,569,112	C/A	—	benign
rs142971046	20:47,569,225	G/A	—	likely benign
rs41304647	20:47,569,226	C/T	—	benign
rs761883849	20:47,569,229	A/G	—	likely benign
rs2516042715	20:47,569,271	C/T	—	likely benign
rs753026131	20:47,569,272	A/G	—	uncertain significance
rs2516042739	20:47,569,278	A/G	—	uncertain significance
rs749416264	20:47,569,307	G/A	—	likely benign
rs148230420	20:47,569,311	A/G	—	uncertain significance
rs2516043040	20:47,569,380	C/T	—	pathogenic
rs773904164	20:47,569,391	C/T	—	likely benign
rs373500218	20:47,569,404	C/T	—	uncertain significance
rs572333257	20:47,569,405	G/A	—	uncertain significance
rs756429771	20:47,569,439	C/T	—	likely benign
rs6019551	20:47,569,703	T/C	—	benign
rs76400436	20:47,570,058	C/G	—	likely benign
rs1403796394	20:47,570,073	C/A	—	likely benign
rs2516044779	20:47,570,104	C/T	—	likely benign
rs28937880	20:47,570,114	G/A	missense variant	pathogenic
rs2516044872	20:47,570,145	C/T	—	uncertain significance
rs200040098	20:47,570,183	C/T	—	uncertain significance
rs140989375	20:47,570,184	G/A	—	uncertain significance
rs1451359812	20:47,570,188	G/A	—	uncertain significance
rs1017267898	20:47,570,195	A/T	—	uncertain significance
rs2091086629	20:47,570,199	A/G	—	uncertain significance
rs1050288163	20:47,570,208	G/A	—	uncertain significance
rs745385629	20:47,570,217	C/G	—	uncertain significance
rs956169696	20:47,570,226	A/T	—	uncertain significance
rs776884400	20:47,570,243	A/T	—	uncertain significance
rs114729625	20:47,570,245	C/A	—	uncertain significance
rs754473579	20:47,570,246	G/A	—	uncertain significance
rs150046458	20:47,570,259	G/A	—	conflicting classifications of pathogenicity
rs766629171	20:47,570,266	T/C	—	likely benign
rs149172723	20:47,570,296	C/T	—	conflicting classifications of pathogenicity
rs778834589	20:47,570,297	G/A	—	uncertain significance
rs938736539	20:47,570,299	A/G	—	likely benign
rs143570842	20:47,570,300	C/G	—	conflicting classifications of pathogenicity
rs375582617	20:47,570,304	G/A	—	uncertain significance
rs370588776	20:47,570,323	G/A	—	likely benign
rs763591309	20:47,570,337	G/A	—	likely benign
rs368437314	20:47,570,342	G/A	—	likely benign
rs2295031	20:47,580,347	A/G	—	benign
rs2516065261	20:47,580,373	A/T	—	uncertain significance
rs368886420	20:47,580,374	T/A	—	uncertain significance
rs372150935	20:47,580,375	G/A	—	uncertain significance
rs749624687	20:47,580,377	C/T	—	likely benign
rs571231961	20:47,580,378	G/A	—	uncertain significance

Showing 100 of 640 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.