Variant ID: 1-55518371-G-A


This variant was identified in 5 publications


Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
P Lebeau, K Platko, AA Al-Hashimi, JH Byun, Š Lhoták, N Holzapfel, G Gyulay, SA Igdoura, DR Cool, B Trigatti, NG Seidah, RC Austin
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: G236S
PMID: 29593095
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Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: G236S
PMID: 29259136
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Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: G236S
PMID: 26195630
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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 706G>A; G236S; rs149489325
PMID: 25904937
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Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

N Ferri
Publication Date: 2012

Variant appearance in text: PCSK9: G236S
PMID: 24278757
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.706G>A p.Gly236Ser missense_variant 5/12 -
ENST00000452118.2 c.*350G>A - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1527G>A - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.106G>A p.Gly36Ser missense_variant 3/10 -
NM_174936.4 c.706G>A p.Gly236Ser missense_variant 5/12 -
NR_110451.1 n.365G>A - non_coding_transcript_exon_variant 3/10 -