APOA1 c.572G>A ;(p.S191N)

Variant ID: 11-116706756-C-T

NM_000039.1(APOA1):c.572G>A;(p.S191N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: APOA1: S191N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Population-based resequencing of APOA1 in 10,330 individuals: spectrum of genetic variation, phenotype, and comparison with extreme phenotype approach.

Plos Genetics
Haase, Christiane L CL; Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Tybjærg-Hansen, Anne A
Publication Date: 2012

Variant appearance in text: APOA1: 572G>A
PubMed Link: 23209431
Variant Present in the following documents:
  • pgen.1003063.s004.pdf
View BVdb publication page