Bibliome.ai browser hg19
Search
About
Stats
FAQ
PCSK9 c.733G>A ;(p.A245T)
Variant ID: 1-55518398-G-A
NM_174936.3(
PCSK9
):c.733G>A;(p.A245T)
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:
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08
Variant appearance in text: PCSK9: A245T
PubMed Link:
34356856
Variant Present in the following documents:
Main text
biomedicines-09-00793.pdf
View BVdb publication page
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020
Variant appearance in text: PCSK9: A245T
PubMed Link:
33173529
Variant Present in the following documents:
Main text
fgene-11-01020.pdf
View BVdb publication page
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
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-02-09
Variant appearance in text: PCSK9: A245T
PubMed Link:
29259136
Variant Present in the following documents:
Main text
View BVdb publication page