PCSK9 c.922G>C ;(p.G308R)

Variant ID: 1-55521788-G-C

NM_174936.3(PCSK9):c.922G>C;(p.G308R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget
Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A
Publication Date: 2021-03-16

Variant appearance in text: PCSK9: G308R
PubMed Link: 33796225
Variant Present in the following documents:
  • oncotarget-12-578-s005.xlsx, sheet 1
View BVdb publication page



Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

Febs Open Bio
Strøm, Thea Bismo TB; Tveten, Kristian K; Laerdahl, Jon K JK; Leren, Trond P TP
Publication Date: 2014

Variant appearance in text: PCSK9: G308R
PubMed Link: 24918045
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
Fan, Daping D; Yancey, Patricia G PG; Qiu, Shenfeng S; Ding, Lei L; Weeber, Edwin J EJ; Linton, MacRae F MF; Fazio, Sergio S
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: G308R
PubMed Link: 18197702
Variant Present in the following documents:
  • Main text
View BVdb publication page