Variant ID: 1-55512268-CT-GC

NM_174936.3(PCSK9):c.472_473delinsGC;(p.Leu158Ala)

This variant was identified in 1 publication




Publications:


Identification of a small peptide that inhibits PCSK9 protein binding to the low density lipoprotein receptor.

The Journal Of Biological Chemistry
Y Zhang, C Eigenbrot, L Zhou, S Shia, W Li, C Quan, J Tom, P Moran, P Di Lello, NJ Skelton, M Kong-Beltran, A Peterson, D Kirchhofer
Publication Date: 2014-01-10

Variant appearance in text: PCSK9: L158A
PMID: 24225950
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.472_473delinsGC p.Leu158Ala missense_variant 3/12 -
ENST00000452118.2 c.472_473delinsGC p.Leu158Ala missense_variant 3/6 -
ENST00000543384.1 c.-77-5683_-77-5682delinsGC - intron_variant - 1/9
NM_174936.4 c.472_473delinsGC p.Leu158Ala missense_variant 3/12 -
NR_110451.1 n.183-5683_183-5682delinsGC - intron_variant,non_coding_transcript_variant - 1/9