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APOE c.836_837delinsAA ;(p.L279Q)
Variant ID: 19-45412389-TC-AA
NM_000041.2(
APOE
):c.836_837delinsAA;(p.L279Q)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Calcium Ions Aggravate Alzheimer's Disease Through the Aberrant Activation of Neuronal Networks, Leading to Synaptic and Cognitive Deficits.
Frontiers In Molecular Neuroscience
Guan, Pei-Pei PP; Cao, Long-Long LL; Yang, Yi Y; Wang, Pu P
Publication Date: 2021
Variant appearance in text: APOE: L279Q
PubMed Link:
34924952
Variant Present in the following documents:
Main text
fnmol-14-757515.pdf
View BVdb publication page
Atomistic Insights into Structural Differences between E3 and E4 Isoforms of Apolipoprotein E.
Biophysical Journal
Ray, Angana A; Ahalawat, Navjeet N; Mondal, Jagannath J
Publication Date: 2017-12-19
Variant appearance in text: APOE: L279Q
PubMed Link:
29262361
Variant Present in the following documents:
Main text
View BVdb publication page
The binding of apolipoprotein E to oligomers and fibrils of amyloid-β alters the kinetics of amyloid aggregation.
Biochemistry
Garai, Kanchan K; Verghese, Philip B PB; Baban, Berevan B; Holtzman, David M DM; Frieden, Carl C
Publication Date: 2014-10-14
Variant appearance in text: APOE: L279Q
PubMed Link:
25207746
Variant Present in the following documents:
Main text
bi5008172.pdf
View BVdb publication page
Apolipoprotein E as a β-amyloid-independent factor in Alzheimer's disease.
Alzheimer'S Research & Therapy
Wolf, Andrew B AB; Valla, Jon J; Bu, Guojun G; Kim, Jungsu J; LaDu, Mary Jo MJ; Reiman, Eric M EM; Caselli, Richard J RJ
Publication Date: 2013
Variant appearance in text: APOE: L279Q
PubMed Link:
23998393
Variant Present in the following documents:
Main text
alzrt204.pdf
View BVdb publication page
Structural differences between apoE3 and apoE4 may be useful in developing therapeutic agents for Alzheimer's disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Frieden, Carl C; Garai, Kanchan K
Publication Date: 2012-06-05
Variant appearance in text: APOE: Leu279Gln
PubMed Link:
22615372
Variant Present in the following documents:
Main text
View BVdb publication page
Structural differences between apolipoprotein E3 and E4 as measured by (19)F NMR.
Protein Science : A Publication Of The Protein Society
Garai, Kanchan K; Mustafi, Sourajit M SM; Baban, Berevan B; Frieden, Carl C
Publication Date: 2010-01
Variant appearance in text: APOE: L279Q
PubMed Link:
19904741
Variant Present in the following documents:
Main text
View BVdb publication page