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PCSK9 c.1908T>G ;(p.S636R)
Variant ID: 1-55529086-T-G
NM_174936.3(
PCSK9
):c.1908T>G;(p.S636R)
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:
Genetic and molecular architecture of familial hypercholesterolemia.
Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04
Variant appearance in text: PCSK9: Ser636Arg
PubMed Link:
36196022
Variant Present in the following documents:
Main text
JOIM-293-144.pdf
View BVdb publication page
Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.
Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021
Variant appearance in text: PCSK9: S636R
PubMed Link:
34782856
Variant Present in the following documents:
Main text
fcvm-08-764038.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: S636R
PubMed Link:
33173529
Variant Present in the following documents:
Main text
fgene-11-01020.pdf
View BVdb publication page