Variant ID: 1-55509622-G-A

NM_174936.3(PCSK9):c.314G>A;(p.R105Q)

This variant was identified in 3 publications

View GRCh38 version.




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: R105Q
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: R105Q
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Ahmed, Waqas W; Whittall, Ros R; Riaz, Moeen M; Ajmal, Muhammad M; Sadeque, Ahmed A; Ayub, Humaira H; Qamar, Raheel R; Humphries, Steve E SE
Publication Date: 2013-06-05

Variant appearance in text: PCSK9: 314G>A; R105Q
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page