AGFG1

ArfGAP with FG repeats 1

Summary

The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Known Variants26 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs769003880	2:228,337,208	C/T	—	uncertain significance
rs757662350	2:228,384,743	A/G	—	uncertain significance
rs781780869	2:228,384,748	T/A	—	uncertain significance
rs61752216	2:228,388,517	T/C	—	likely benign
rs921991135	2:228,388,579	C/A	—	uncertain significance
rs1397641583	2:228,389,566	C/T	—	uncertain significance
rs755915101	2:228,389,568	C/T	—	uncertain significance
rs2470379553	2:228,389,581	C/T	—	uncertain significance
rs753713836	2:228,395,834	C/T	—	uncertain significance
rs145098784	2:228,395,902	T/A	—	uncertain significance
rs2470391813	2:228,396,881	G/A	—	uncertain significance
rs368982901	2:228,396,884	T/C	—	likely benign
rs6731443	2:228,397,566	T/C	—	—
rs776720135	2:228,398,396	A/G	—	likely benign
rs201506988	2:228,398,454	A/G	—	uncertain significance
rs143989711	2:228,398,457	T/C	—	uncertain significance
rs1575105938	2:228,399,586	G/A	—	likely benign
rs1475115262	2:228,399,599	G/C	—	uncertain significance
rs373217967	2:228,399,715	G/A	—	likely benign
rs144407737	2:228,401,354	A/C	—	uncertain significance
rs185216299	2:228,401,382	C/T	—	uncertain significance
rs770249122	2:228,401,412	C/T	—	uncertain significance
rs926228180	2:228,401,670	T/C	—	uncertain significance
rs13424689	2:228,404,167	C/G	—	—
rs529173258	2:228,416,829	C/T	—	likely benign
rs749548029	2:228,419,194	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.