PC c.671C>T ;(p.A224V)

Variant ID: 11-66638326-G-A

NM_001040716.1(PC):c.671C>T;(p.A224V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Frontiers In Endocrinology
Vancamp, Pieter P; Demeneix, Barbara A BA; Remaud, Sylvie S
Publication Date: 2020

Variant appearance in text: PC: 671C>T
PubMed Link: 32477268
Variant Present in the following documents:
  • fendo-11-00283.pdf
View BVdb publication page



Crystal structure of a soluble fragment of poliovirus 2CATPase.

Plos Pathogens
Guan, Hongxin H; Tian, Juan J; Zhang, Chu C; Qin, Bo B; Cui, Sheng S
Publication Date: 2018-09

Variant appearance in text: PC: A224V
PubMed Link: 30231078
Variant Present in the following documents:
  • Main text
  • ppat.1007304.pdf
View BVdb publication page



Structure and function of thyroid hormone plasma membrane transporters.

European Thyroid Journal
Schweizer, Ulrich U; Johannes, Jörg J; Bayer, Dorothea D; Braun, Doreen D
Publication Date: 2014-09

Variant appearance in text: PC: Ala224Val
PubMed Link: 25538896
Variant Present in the following documents:
  • etj-0003-0143.pdf
View BVdb publication page



Lack of association between cathepsin D C224T polymorphism and Alzheimer's disease risk: an update meta-analysis.

Bmc Neurology
Mo, Cuiju C; Peng, Qiliu Q; Sui, Jingzhe J; Wang, Jian J; Deng, Yan Y; Xie, Li L; Li, Taijie T; He, Yu Y; Qin, Xue X; Li, Shan S
Publication Date: 2014-01-15

Variant appearance in text: PC: Ala224Val
PubMed Link: 24423188
Variant Present in the following documents:
  • 1471-2377-14-13.pdf
View BVdb publication page



Network models of TEM β-lactamase mutations coevolving under antibiotic selection show modular structure and anticipate evolutionary trajectories.

Plos Computational Biology
Guthrie, Violeta Beleva VB; Allen, Jennifer J; Camps, Manel M; Karchin, Rachel R
Publication Date: 2011-09

Variant appearance in text: PC: A224V
PubMed Link: 21966264
Variant Present in the following documents:
  • pcbi.1002184.pdf
View BVdb publication page