Variant ID: 1-55523127-G-C

NM_174936.3(PCSK9):c.1120G>C;(p.Asp374His)

This variant was identified in 4 publications




Publications:


Computational Study of PCSK9-EGFA Complex with Effective Polarizable Bond Force Field.

Frontiers In Molecular Biosciences
J Chen, L Duan, C Ji, JZH Zhang
Publication Date: 2017

Variant appearance in text: PCSK9: D374H
PMID: 29379787
View BVdb publication page



Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular Research
GD Norata, H Tavori, A Pirillo, S Fazio, AL Catapano
Publication Date: 2016-10

Variant appearance in text: PCSK9: D374H
PMID: 27496869
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: D374H
PMID: 21862702
View BVdb publication page



Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.

Bioinformatics (Oxford, England)
F Xin, S Myers, YF Li, DN Cooper, SD Mooney, P Radivojac
Publication Date: 2010-08-15

Variant appearance in text: PCSK9: D374H
PMID: 20551136
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1120G>C p.Asp374His missense_variant 7/12 -
ENST00000490692.1 n.1844G>C - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.520G>C p.Asp174His missense_variant 5/10 -
NM_174936.4 c.1120G>C p.Asp374His missense_variant 7/12 -
NR_110451.1 n.779G>C - non_coding_transcript_exon_variant 5/10 -