PMID: 22493497

Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).

The Journal of biological chemistry
V Sharotri, DM Collier, DR Olson, R Zhou, PM Snyder

5 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
12-50471005-CG-GC ASIC1 c.568_569delCGinsGC p.Arg190Ala Missense 4/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
12-50453702-CG-GC ASIC1 c.523_524delCGinsGC p.Arg175Ala Missense 3/12 -
12-50471038-CG-GC ASIC1 c.601_602delCGinsGC p.Arg201Ala Missense 4/12 -
12-50471047-CG-GC ASIC1 c.610_611delCGinsGC p.Arg204Ala Missense 4/12 -