F2 c.1459G>A ;(p.E487K)

Variant ID: 11-46750374-G-A

NM_000506.3(F2):c.1459G>A;(p.E487K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Polymorphisms, diet and nutrigenomics.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Bonetti, Gabriele G; Donato, Kevin K; Kaftalli, Jurgen J; Herbst, Karen L KL; Stuppia, Liborio L; Fioretti, Francesco F; Nodari, Savina S; Perrone, Marco M; Chiurazzi, Pietro P; Bellinato, Francesco F; Gisondi, Paolo P; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: F2: E487K
PubMed Link: 36479483
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e125.pdf
View BVdb publication page



Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Molecular Genetics & Genomic Medicine
Slynko, Inna I; Nguyen, Stephanie S; Hamilton, Eline M C EMC; Wisse, Lisanne E LE; de Esch, Iwan J P IJP; de Graaf, Chris C; Bruning, John B JB; Proud, Christopher G CG; Abbink, Truus E M TEM; van der Knaap, Marjo S MS
Publication Date: 2021-03

Variant appearance in text: F2: 1459G>A; Glu487Lys
PubMed Link: 33432707
Variant Present in the following documents:
  • MGG3-9-e1593-s001.pdf
View BVdb publication page



Genetic polymorphisms of ADH1B, ADH1C and ALDH2 in Turkish alcoholics: lack of association with alcoholism and alcoholic cirrhosis.

Bosnian Journal Of Basic Medical Sciences
Vatansever, Sezgin S; Tekin, Fatih F; Salman, Esin E; Altintoprak, Ender E; Coskunol, Hakan H; Akarca, Ulus Salih US
Publication Date: 2015-05-17

Variant appearance in text: F2: Glu487Lys
PubMed Link: 26042511
Variant Present in the following documents:
  • Main text
View BVdb publication page