SEH1L

SEH1 like nucleoporin

Summary

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants23 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2510464676	18:12,948,157	G/A	—	uncertain significance
rs761546237	18:12,951,873	G/T	—	uncertain significance
rs182717611	18:12,955,146	C/T	intron variant	—
rs199814016	18:12,963,362	C/A	—	uncertain significance
rs374718956	18:12,971,180	G/A	—	uncertain significance
rs202143910	18:12,971,205	A/G	—	uncertain significance
rs142041554	18:12,971,215	C/T	—	benign
rs72636758	18:12,977,945	A/G	intron variant	—
rs887586306	18:12,978,777	T/C	—	uncertain significance
rs764530135	18:12,978,803	A/G	—	uncertain significance
rs1598973806	18:12,978,815	C/G	—	uncertain significance
rs2510230980	18:12,978,860	G/T	—	uncertain significance
rs368812938	18:12,978,887	G/C	—	uncertain significance
rs1278754693	18:12,982,537	G/T	—	uncertain significance
rs761565691	18:12,982,581	A/T	—	uncertain significance
rs754359932	18:12,982,621	C/T	—	uncertain significance
rs73953326	18:12,984,137	G/C	—	uncertain significance
rs1447605405	18:12,986,872	C/T	—	uncertain significance
rs372017827	18:12,986,890	G/C	—	uncertain significance
rs138726079	18:12,986,917	C/G	—	uncertain significance
rs1330985737	18:12,986,940	C/T	—	uncertain significance
rs2510239766	18:12,987,004	G/A	—	uncertain significance
rs760235253	18:12,987,037	C/T	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.