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APOE c.148C>T ;(p.R50C)
Variant ID: 19-45411121-C-T
NM_000041.2(
APOE
):c.148C>T;(p.R50C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: APOE: R50C
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10
Variant appearance in text: rs11542029
PubMed Link:
30076208
Variant Present in the following documents:
10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
View BVdb publication page
Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.
Neurology Research International
Masoodi, Tariq Ahmad TA; Al Shammari, Sulaiman A SA; Al-Muammar, May N MN; Alhamdan, Adel A AA
Publication Date: 2012
Variant appearance in text: APOE: R50C; rs11542029
PubMed Link:
22530123
Variant Present in the following documents:
Main text
NRI2012-480609.pdf
View BVdb publication page