NT5E

5'-nucleotidase ecto

Summary

The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

Known Variants65 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1768822909	6:86,159,867	C/G	—	uncertain significance
rs1201305832	6:86,159,875	G/C	—	likely benign
rs2127752774	6:86,159,876	C/G	—	uncertain significance
rs764641438	6:86,159,885	G/C	—	uncertain significance
rs2127752780	6:86,159,888	A/G	—	uncertain significance
rs2127752786	6:86,159,892	T/G	—	uncertain significance
rs368613430	6:86,159,899	C/T	—	benign
rs2533989646	6:86,159,904	T/G	—	uncertain significance
rs201419844	6:86,159,933	G/T	—	likely benign
rs1582363644	6:86,159,957	A/G	—	uncertain significance
rs866148648	6:86,160,029	A/G	—	likely benign
rs749316227	6:86,160,064	G/T	—	uncertain significance
rs138139831	6:86,160,080	G/T	—	not provided
rs756522878	6:86,160,170	A/G	—	uncertain significance
rs9444348	6:86,175,574	G/T	—	—
rs35694460	6:86,176,780	A/G	—	benign
rs142302523	6:86,176,882	G/A	—	likely benign
rs762510191	6:86,176,889	G/C	—	uncertain significance
rs200369370	6:86,176,895	C/G	—	benign
rs997937175	6:86,176,901	T/A	—	uncertain significance
rs74858361	6:86,176,966	C/T	—	benign
rs751230383	6:86,180,961	A/C	—	uncertain significance
rs373328681	6:86,181,054	C/A	stop gained	pathogenic
rs776833936	6:86,181,137	T/C	—	uncertain significance
rs4235826	6:86,184,890	G/A	intron variant	—
rs4431401	6:86,189,520	T/C	intron variant	—
rs565537252	6:86,194,979	G/C	—	uncertain significance
rs753264245	6:86,195,024	G/C	—	uncertain significance
rs41271617	6:86,195,033	G/A	—	conflicting classifications of pathogenicity
rs1458367835	6:86,195,039	G/T	—	uncertain significance
rs1388004320	6:86,195,041	C/A	—	likely benign
rs35478984	6:86,195,098	C/T	—	benign
rs141102470	6:86,195,125	T/C	—	likely benign
rs1338053146	6:86,195,139	G/A	—	uncertain significance
rs570714428	6:86,197,068	C/T	—	uncertain significance
rs767906990	6:86,197,069	A/G	—	likely benign
rs147019457	6:86,197,082	T/C	—	uncertain significance
rs387906620	6:86,197,176	G/A	missense variant	pathogenic
rs1372152777	6:86,199,230	C/A	—	uncertain significance
rs2229523	6:86,199,233	A/G	—	benign
rs566262245	6:86,199,293	T/C	—	uncertain significance
rs2534043582	6:86,199,299	A/C	—	uncertain significance
rs138876213	6:86,199,314	A/C	—	likely benign
rs769192189	6:86,199,315	A/G	—	uncertain significance
rs9450284	6:86,199,329	C/G	—	benign
rs376406036	6:86,200,235	C/T	—	uncertain significance
rs146166792	6:86,200,236	C/G	—	benign
rs1390502643	6:86,200,261	C/T	—	uncertain significance
rs146054415	6:86,200,268	G/A	—	uncertain significance
rs2534045121	6:86,200,279	G/T	—	uncertain significance
rs2127725547	6:86,200,286	T/G	—	uncertain significance
rs555091279	6:86,200,293	A/G	—	likely benign
rs751032063	6:86,200,324	C/G	—	uncertain significance
rs376616753	6:86,200,360	T/C	—	uncertain significance
rs1417814667	6:86,201,702	T/C	—	likely benign
rs755218216	6:86,201,721	C/T	—	not provided
rs201008460	6:86,201,722	G/A	—	uncertain significance
rs1769796270	6:86,201,762	C/A	—	likely pathogenic
rs773781046	6:86,201,773	G/T	—	uncertain significance
rs2534047567	6:86,201,780	C/T	—	likely benign
rs759736185	6:86,201,799	A/T	—	uncertain significance
rs139343924	6:86,201,837	G/A	—	likely benign
rs150989796	6:86,201,873	T/C	—	likely benign
rs34160251	6:86,203,585	A/G	—	benign
rs372698120	6:86,203,658	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.