Variant ID: 1-55509516-GA-CC

NM_174936.3(PCSK9):c.208_209delinsCC;(p.Asp70Pro)

This variant was identified in 1 publication




Publications:


Novel domain interaction regulates secretion of proprotein convertase subtilisin/kexin type 9 (PCSK9) protein.

The Journal Of Biological Chemistry
F Du, Y Hui, M Zhang, MF Linton, S Fazio, D Fan
Publication Date: 2011-12-16

Variant appearance in text: PCSK9: D70P
PMID: 22027821
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.208_209delinsCC p.Asp70Pro missense_variant,splice_region_variant 2/12 -
ENST00000452118.2 c.208_209delinsCC p.Asp70Pro missense_variant,splice_region_variant 2/6 -
ENST00000543384.1 c.-78+3440_-78+3441delinsCC - intron_variant - 1/9
NM_174936.4 c.208_209delinsCC p.Asp70Pro missense_variant,splice_region_variant 2/12 -
NR_110451.1 n.182+3440_182+3441delinsCC - intron_variant,non_coding_transcript_variant - 1/9