Variant ID: 1-55523146-T-C

NM_174936.3(PCSK9):c.1139T>C;(p.Val380Ala)

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: V380A
PMID: 24225950
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1139T>C p.Val380Ala missense_variant 7/12 -
ENST00000490692.1 n.1863T>C - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.539T>C p.Val180Ala missense_variant 5/10 -
NM_174936.4 c.1139T>C p.Val380Ala missense_variant 7/12 -
NR_110451.1 n.798T>C - non_coding_transcript_exon_variant 5/10 -