PRNP c.381C>G ;(p.G127=)

Variant ID: 20-4680247-C-G

NM_000311.3(PRNP):c.381C>G;(p.G127=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania.

Genes
Gurau, Maria Rodica MR; Negru, Elena E; Ionescu, Teodor T; Udriste, Anca Amalia AA; Cornea, Călina Petruța CP; Baraitareanu, Stelian S
Publication Date: 2022-07-23

Variant appearance in text: PRNP: G127G
PubMed Link: 35893054
Variant Present in the following documents:
  • Main text
  • genes-13-01316.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PRNP: G127G
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Five novel PRNP gene polymorphisms and their potential effect on Scrapie susceptibility in three native Ethiopian sheep breeds.

Bmc Veterinary Research
Teferedegn, Eden Yitna EY; Yaman, Yalcin Y; Un, Cemal C
Publication Date: 2020-04-29

Variant appearance in text: PRNP: G127G
PubMed Link: 32349749
Variant Present in the following documents:
  • Main text
  • 12917_2020_Article_2336.pdf
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: PRNP: G127G
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats.

Bmc Veterinary Research
Vitale, Maria M; Migliore, Sergio S; Tilahun, Berhanu B; Abdurahaman, Mukarim M; Tolone, Marco M; Sammarco, Ignazio I; Di Marco Lo Presti, Vincenzo V; Gebremedhin, Endrias Zewdu EZ
Publication Date: 2019-05-03

Variant appearance in text: PRNP: Gly127Gly
PubMed Link: 31053138
Variant Present in the following documents:
  • Main text
  • 12917_2019_Article_1870.pdf
View BVdb publication page