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Variant ID: 1-55523033-A-G
NM_174936.3(
PCSK9
):c.1026A>G;(p.Q342=)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.
Clinical And Translational Medicine
Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X
Publication Date: 2022-03
Variant appearance in text: PCSK9: 1026A>G
PubMed Link:
35343078
Variant Present in the following documents:
CTM2-12-e773-s001.pdf
View BVdb publication page
Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH Registry?
Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2021-12-04
Variant appearance in text: PCSK9: 1026A>G
PubMed Link:
34875256
Variant Present in the following documents:
main.pdf
View BVdb publication page
Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.
Journal Of Clinical Medicine
Vlad, Cristiana-Elena CE; Foia, Liliana Georgeta LG; Popescu, Roxana R; Popa, Ioana I; Aanicai, Ruxandra R; Reurean-Pintilei, Delia D; Toma, Vasilica V; Florea, Laura L; Kanbay, Mehmet M; Covic, Adrian A
Publication Date: 2021-03-31
Variant appearance in text: PCSK9: 1026A>G; Gln342=; rs509504
PubMed Link:
33807407
Variant Present in the following documents:
Main text
jcm-10-01399.pdf
jcm-10-01399-s001.pdf
View BVdb publication page