PNPLA3 c.31_32inv ;(p.S11D)

Variant ID: 22-44319822-TC-GA

NM_025225.2(PNPLA3):c.31_32inv;(p.S11D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Nonalcoholic Fatty Liver Disease in Lean/Nonobese and Obese Individuals: A Comprehensive Review on Prevalence, Pathogenesis, Clinical Outcomes, and Treatment.

Journal Of Clinical And Translational Hepatology
Patel, Ankoor H AH; Peddu, Dhiraj D; Amin, Sahil S; Elsaid, Mohamed I MI; Minacapelli, Carlos D CD; Chandler, Toni-Marie TM; Catalano, Carolyn C; Rustgi, Vinod K VK
Publication Date: 2023-04-28

Variant appearance in text: PNPLA3: s11d
PubMed Link: 36643037
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mboat7 down-regulation by hyper-insulinemia induces fat accumulation in hepatocytes.

Ebiomedicine
Meroni, Marica M; Dongiovanni, Paola P; Longo, Miriam M; Carli, Fabrizia F; Baselli, Guido G; Rametta, Raffaela R; Pelusi, Serena S; Badiali, Sara S; Maggioni, Marco M; Gaggini, Melania M; Fracanzani, Anna Ludovica AL; Romeo, Stefano S; Gatti, Stefano S; Davidson, Nicholas O NO; Gastaldelli, Amalia A; Valenti, Luca L
Publication Date: 2020-02

Variant appearance in text: PNPLA3: S11D
PubMed Link: 32058943
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page