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Variant ID: 1-55529086-T-A
NM_174936.3(
PCSK9
):c.1908T>A;(p.S636R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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