HSP90B1 c.50G>T ;(p.G17V)

Variant ID: 12-104325299-G-T

NM_003299.2(HSP90B1):c.50G>T;(p.G17V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC
Publication Date: 2022-02-26

Variant appearance in text: GRP94: G17V
PubMed Link: 35323658
Variant Present in the following documents:
  • Main text
  • metabolites-12-00215.pdf
View BVdb publication page



Calcium as a reliable marker for the quantitative assessment of endoplasmic reticulum stress in live cells.

The Journal Of Biological Chemistry
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Austin, Richard C RC
Publication Date: 2021

Variant appearance in text: GRP94: G17V
PubMed Link: 34000299
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The loss-of-function PCSK9Q152H variant increases ER chaperones GRP78 and GRP94 and protects against liver injury.

The Journal Of Clinical Investigation
Lebeau, Paul F PF; Wassef, Hanny H; Byun, Jae Hyun JH; Platko, Khrystyna K; Ason, Brandon B; Jackson, Simon S; Dobroff, Joshua J; Shetterly, Susan S; Richards, William G WG; Al-Hashimi, Ali A AA; Won, Kevin Doyoon KD; Mbikay, Majambu M; Prat, Annik A; Tang, An A; Paré, Guillaume G; Pasqualini, Renata R; Seidah, Nabil G NG; Arap, Wadih W; Chrétien, Michel M; Austin, Richard C RC
Publication Date: 2021-01-19

Variant appearance in text: GRP94: G17V
PubMed Link: 33211673
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
Lebeau, Paul P; Platko, Khrystyna K; Al-Hashimi, Ali A AA; Byun, Jae Hyun JH; Lhoták, Šárka Š; Holzapfel, Nicholas N; Gyulay, Gabriel G; Igdoura, Suleiman A SA; Cool, David R DR; Trigatti, Bernardo B; Seidah, Nabil G NG; Austin, Richard C RC
Publication Date: 2018-05-11

Variant appearance in text: GRP94: G17V
PubMed Link: 29593095
Variant Present in the following documents:
  • Main text
View BVdb publication page