GC c.839A>C ;(p.E280A)

Variant ID: 4-72622624-T-G

NM_000583.3(GC):c.839A>C;(p.E280A)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 839A>C; E280A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: GC: 839A>C
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A neurologist's perspective on serum neurofilament light in the memory clinic: a prospective implementation study.

Alzheimer'S Research & Therapy
Willemse, E A J EAJ; Scheltens, P P; Teunissen, C E CE; Vijverberg, E G B EGB
Publication Date: 2021-05-18

Variant appearance in text: GC: E280A
PubMed Link: 34006321
Variant Present in the following documents:
  • 13195_2021_Article_841.pdf
View BVdb publication page



Cerebral amyloid-β load is associated with neurodegeneration and gliosis: Mediation by p-tau and interactions with risk factors early in the Alzheimer's continuum.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Salvadó, Gemma G; Milà-Alomà, Marta M; Shekari, Mahnaz M; Minguillon, Carolina C; Fauria, Karine K; Niñerola-Baizán, Aida A; Perissinotti, Andrés A; Kollmorgen, Gwendlyn G; Buckley, Christopher C; Farrar, Gill G; Zetterberg, Henrik H; Blennow, Kaj K; Suárez-Calvet, Marc M; Molinuevo, José Luis JL; Gispert, Juan Domingo JD; ,
Publication Date: 2021-05

Variant appearance in text: GC: E280A
PubMed Link: 33663013
Variant Present in the following documents:
  • ALZ-17-788.pdf
View BVdb publication page



Asymmetric Biocatalytic Synthesis of 1-Aryltetrahydro-β-carbolines Enabled by "Substrate Walking".

Chemistry (Weinheim An Der Bergstrasse, Germany)
Eger, Elisabeth E; Schrittwieser, Joerg H JH; Wetzl, Dennis D; Iding, Hans H; Kuhn, Bernd B; Kroutil, Wolfgang W
Publication Date: 2020-12-09

Variant appearance in text: GC: E280A
PubMed Link: 33017078
Variant Present in the following documents:
  • CHEM-26-16281-s002.pdf
View BVdb publication page



Scattering Angle Resolved Optical Coherence Tomography Detects Early Changes in 3xTg Alzheimer's Disease Mouse Model.

Translational Vision Science & Technology
Gardner, Michael R MR; Baruah, Vikram V; Vargas, Gracie G; Motamedi, Massoud M; Milner, Thomas E TE; Rylander, Henry G HG
Publication Date: 2020-04

Variant appearance in text: GC: E280A
PubMed Link: 32821490
Variant Present in the following documents:
  • tvst-9-5-18.pdf
View BVdb publication page



The effects of cognitive-motor training interventions on executive functions in older people: a systematic review and meta-analysis.

European Review Of Aging And Physical Activity : Official Journal Of The European Group For Research Into Elderly And Physical Activity
Wollesen, Bettina B; Wildbredt, Alicia A; van Schooten, Kimberley S KS; Lim, Mei Ling ML; Delbaere, Kim K
Publication Date: 2020

Variant appearance in text: GC: E280A
PubMed Link: 32636957
Variant Present in the following documents:
  • 11556_2020_Article_240.pdf
View BVdb publication page



Hypoxia-Induced Degenerative Protein Modifications Associated with Aging and Age-Associated Disorders.

Aging And Disease
Adav, Sunil S SS; Sze, Siu Kwan SK
Publication Date: 2020-04

Variant appearance in text: GC: E280A
PubMed Link: 32257546
Variant Present in the following documents:
  • ad-11-2-341.pdf
View BVdb publication page



Personalized risk for clinical progression in cognitively normal subjects-the ABIDE project.

Alzheimer'S Research & Therapy
van Maurik, Ingrid S IS; Slot, Rosalinde E R RER; Verfaillie, Sander C J SCJ; Zwan, Marissa D MD; Bouwman, Femke H FH; Prins, Niels D ND; Teunissen, Charlotte E CE; Scheltens, Philip P; Barkhof, Frederik F; Wattjes, Mike P MP; Molinuevo, Jose Luis JL; Rami, Lorena L; Wolfsgruber, Steffen S; Peters, Oliver O; Jessen, Frank F; Berkhof, Johannes J; van der Flier, Wiesje M WM; ,
Publication Date: 2019-04-16

Variant appearance in text: GC: E280A
PubMed Link: 30987684
Variant Present in the following documents:
  • 13195_2019_Article_487.pdf
View BVdb publication page



Hexameric assembly of the AAA+ protein McrB is necessary for GTPase activity.

Nucleic Acids Research
Nirwan, Neha N; Singh, Pratima P; Mishra, Gyana Gourab GG; Johnson, Christopher M CM; Szczelkun, Mark D MD; Inoue, Katsuaki K; Vinothkumar, Kutti R KR; Saikrishnan, Kayarat K
Publication Date: 2019-01-25

Variant appearance in text: GC: E280A
PubMed Link: 30521042
Variant Present in the following documents:
  • gky1170.pdf
View BVdb publication page



Prevalence of dementia in Colombian populations.

Dementia & Neuropsychologia
Vargas, Efraín Amaya EA; Gallardo, Ángela Magnolia Ríos ÁMR; Manrrique, Guillermo González GG; Murcia-Paredes, Lina M LM; Riaño, María Consuelo Angarita MCA; ,
Publication Date: 2014

Variant appearance in text: GC: E280A
PubMed Link: 29213921
Variant Present in the following documents:
  • dn-08-04-0323.pdf
View BVdb publication page



Neurocognitive and Behavioral Indexes for Identifying the Amnestic Subtypes of Mild Cognitive Impairment.

Journal Of Alzheimer'S Disease : Jad
Cid-Fernández, Susana S; Lindín, Mónica M; Díaz, Fernando F
Publication Date: 2017

Variant appearance in text: GC: E280A
PubMed Link: 28869473
Variant Present in the following documents:
  • jad-60-jad170369.pdf
View BVdb publication page



Current status of biomarker research in neurology.

The Epma Journal
Polivka, Jiri J; Polivka, Jiri J; Krakorova, Kristyna K; Peterka, Marek M; Topolcan, Ondrej O
Publication Date: 2016

Variant appearance in text: GC: E280A
PubMed Link: 27379174
Variant Present in the following documents:
  • 13167_2016_Article_63.pdf
View BVdb publication page



Genetics and genomic medicine in Colombia.

Molecular Genetics & Genomic Medicine
De Castro, Mauricio M; Restrepo, Carlos Martín CM
Publication Date: 2015-03

Variant appearance in text: GC: E280A
PubMed Link: 25802878
Variant Present in the following documents:
  • mgg30003-0084.pdf
View BVdb publication page



Eye movement analysis and cognitive processing: detecting indicators of conversion to Alzheimer's disease.

Neuropsychiatric Disease And Treatment
Pereira, Marta Lg Freitas ML; Camargo, Marina von Zuben A Mv; Aprahamian, Ivan I; Forlenza, Orestes V OV
Publication Date: 2014

Variant appearance in text: GC: E280A
PubMed Link: 25031536
Variant Present in the following documents:
  • ndt-10-1273.pdf
View BVdb publication page



Identification of altered metabolic pathways in plasma and CSF in mild cognitive impairment and Alzheimer's disease using metabolomics.

Plos One
Trushina, Eugenia E; Dutta, Tumpa T; Persson, Xuan-Mai T XM; Mielke, Michelle M MM; Petersen, Ronald C RC
Publication Date: 2013

Variant appearance in text: GC: E280A
PubMed Link: 23700429
Variant Present in the following documents:
  • pone.0063644.pdf
View BVdb publication page



Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function.

Molecular Biology Of The Cell
Ryan, Scott D SD; Ferrier, Andrew A; Sato, Tadasu T; O'Meara, Ryan W RW; De Repentigny, Yves Y; Jiang, Susan X SX; Hou, Sheng T ST; Kothary, Rashmi R
Publication Date: 2012-02

Variant appearance in text: GC: E280A
PubMed Link: 22190742
Variant Present in the following documents:
  • 553.pdf
View BVdb publication page



Adaptor protein controlled oligomerization activates the AAA+ protein ClpC.

The Embo Journal
Kirstein, Janine J; Schlothauer, Tilman T; Dougan, David A DA; Lilie, Hauke H; Tischendorf, Gilbert G; Mogk, Axel A; Bukau, Bernd B; Turgay, Kürşad K
Publication Date: 2006-04-05

Variant appearance in text: GC: E280A
PubMed Link: 16525504
Variant Present in the following documents:
  • Main text
View BVdb publication page