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.




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