PNPLA3 c.680T>C ;(p.V227A)

Variant ID: 22-44328951-T-C

NM_025225.2(PNPLA3):c.680T>C;(p.V227A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Nonalcoholic Fatty Liver Disease (NAFLD) Name Change: Requiem or Reveille?

Journal Of Clinical And Translational Hepatology
Singh, Shivaram P SP; Anirvan, Prajna P; Khandelwal, Reshu R; Satapathy, Sanjaya K SK
Publication Date: 2021-12-28

Variant appearance in text: PNPLA3: Val227Ala
PubMed Link: 34966656
Variant Present in the following documents:
  • Main text
  • JCTH-9-931.pdf
View BVdb publication page



The Association between Pediatric NAFLD and Common Genetic Variants.

Children (Basel, Switzerland)
Umano, Giuseppina Rosaria GR; Martino, Mariangela M; Santoro, Nicola N
Publication Date: 2017-06-18

Variant appearance in text: PNPLA3: Val227Ala
PubMed Link: 28629152
Variant Present in the following documents:
  • Main text
  • children-04-00049.pdf
View BVdb publication page



Pediatric non-alcoholic fatty liver disease: Recent solutions, unresolved issues, and future research directions.

World Journal Of Gastroenterology
Clemente, Maria Grazia MG; Mandato, Claudia C; Poeta, Marco M; Vajro, Pietro P
Publication Date: 2016-09-28

Variant appearance in text: PNPLA3: Val227Ala
PubMed Link: 27688650
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Molecular Genetics & Genomic Medicine
Edelman, Deborah D; Kalia, Harmit H; Delio, Maria M; Alani, Mustafa M; Krishnamurthy, Karthik K; Abd, Mortadha M; Auton, Adam A; Wang, Tao T; Wolkoff, Allan W AW; Morrow, Bernice E BE
Publication Date: 2015-11

Variant appearance in text: PNPLA3: 680T>C
PubMed Link: 26740948
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population.

Plos One
Peng, Xian-E XE; Wu, Yun-Li YL; Lin, Shao-Wei SW; Lu, Qing-Qing QQ; Hu, Zhi-Jian ZJ; Lin, Xu X
Publication Date: 2012

Variant appearance in text: PNPLA3: Val227Ala
PubMed Link: 23226254
Variant Present in the following documents:
  • pone.0050256.pdf
View BVdb publication page



Lack of association between peroxisome proliferator-activated receptors alpha and gamma2 polymorphisms and progressive liver damage in patients with non-alcoholic fatty liver disease: a case control study.

Bmc Gastroenterology
Dongiovanni, Paola P; Rametta, Raffaela R; Fracanzani, Anna Ludovica AL; Benedan, Luca L; Borroni, Vittorio V; Maggioni, Paolo P; Maggioni, Marco M; Fargion, Silvia S; Valenti, Luca L
Publication Date: 2010-09-08

Variant appearance in text: PNPLA3: Val227Ala
PubMed Link: 20825652
Variant Present in the following documents:
  • 1471-230X-10-102.pdf
View BVdb publication page