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.




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