PRNP c.53A>G ;(p.D18G)

Variant ID: 20-4679919-A-G

NM_000311.3(PRNP):c.53A>G;(p.D18G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: PRNP: D18G
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Luman contributes to brefeldin A-induced prion protein gene expression by interacting with the ERSE26 element.

Scientific Reports
Déry, Marc-André MA; LeBlanc, Andréa C AC
Publication Date: 2017-02-13

Variant appearance in text: PRNP: D18G
PubMed Link: 28205568
Variant Present in the following documents:
  • Main text
  • srep42285.pdf
View BVdb publication page



Regulating extracellular proteostasis capacity through the unfolded protein response.

Prion
Genereux, Joseph C JC; Wiseman, R Luke RL
Publication Date: 2015

Variant appearance in text: CJD: D18G
PubMed Link: 25946012
Variant Present in the following documents:
  • Main text
View BVdb publication page