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APOE c.410G>A ;(p.R137H)
Variant ID: 19-45411963-G-A
NM_000041.2(
APOE
):c.410G>A;(p.R137H)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
International Journal Of Molecular Sciences
Abou Khalil, Yara Y; Marmontel, Oriane O; Ferrières, Jean J; Paillard, François F; Yelnik, Cécile C; Carreau, Valérie V; Charrière, Sybil S; Bruckert, Eric E; Gallo, Antonio A; Giral, Philippe P; Philippi, Anne A; Bluteau, Olivier O; Boileau, Catherine C; Abifadel, Marianne M; Di-Filippo, Mathilde M; Carrié, Alain A; Rabès, Jean-Pierre JP; Varret, Mathilde M
Publication Date: 2022-05-21
Variant appearance in text: APOE: 410G>A; Arg137His; rs11542035
PubMed Link:
35628605
Variant Present in the following documents:
Main text
ijms-23-05792.pdf
View BVdb publication page
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: R137H
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: rs11542035
PubMed Link:
30076208
Variant Present in the following documents:
10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
View BVdb publication page
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12
Variant appearance in text: APOE: R137H; rs11542035
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 4
NIHMS753666-supplement-2.xlsx, sheet 2
View BVdb publication page
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Plos Genetics
Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD
Publication Date: 2014-10
Variant appearance in text: APOE: R137H
PubMed Link:
25299611
Variant Present in the following documents:
pgen.1004704.s004.xlsx, sheet 1
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: R137H; rs11542035
PubMed Link:
22530123
Variant Present in the following documents:
Main text
NRI2012-480609.pdf
View BVdb publication page