XPO1

exportin 1

Summary

This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]

Known Variants28 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1214328640	2:61,706,079	G/A	—	uncertain significance
rs6709112	2:61,707,438	A/C	—	—
rs2465962485	2:61,708,403	G/C	—	uncertain significance
rs769202956	2:61,710,085	T/A	—	likely benign
rs13385575	2:61,711,211	C/T	—	benign
rs61235340	2:61,713,220	T/G	—	—
rs373800890	2:61,715,342	C/T	—	likely benign
rs762581181	2:61,715,378	A/C	—	uncertain significance
rs184305497	2:61,715,766	G/A	—	benign
rs2466147473	2:61,717,847	T/A	—	uncertain significance
rs143005485	2:61,719,182	A/C	—	likely benign
rs1057520010	2:61,719,471	T/A	missense variant	—
rs1057520009	2:61,719,472	C/T	missense variant	uncertain significance
rs1281320213	2:61,719,560	T/C	—	likely benign
rs587778011	2:61,719,932	T/C	—	not provided
rs587778764	2:61,721,115	A/G	—	not provided
rs747402479	2:61,722,721	G/A	—	uncertain significance
rs61761632	2:61,722,724	G/A	—	conflicting classifications of pathogenicity
rs140857799	2:61,724,005	T/C	—	benign
rs61761631	2:61,725,856	G/A	—	likely benign
rs2104491349	2:61,725,900	G/A	—	uncertain significance
rs1697567637	2:61,729,439	T/A	—	uncertain significance
rs7570830	2:61,745,528	A/G	—	—
rs2466731460	2:61,753,572	G/C	—	uncertain significance
rs2466731849	2:61,753,612	A/C	—	likely benign
rs7421663	2:61,753,786	C/T	intron variant	—
rs3771260	2:61,762,384	G/T	intron variant	—
rs3771258	2:61,764,140	C/A	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.