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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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