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APOE c.206T>A ;(p.L69Q)
Variant ID: 19-45411179-T-A
NM_000041.2(
APOE
):c.206T>A;(p.L69Q)
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: L69Q
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: rs768780599
PubMed Link:
30076208
Variant Present in the following documents:
10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
View BVdb publication page
Global conformational selection and local induced fit for the recognition between intrinsic disordered p53 and CBP.
Plos One
Yu, Qingfen Q; Ye, Wei W; Wang, Wei W; Chen, Hai-Feng HF
Publication Date: 2013
Variant appearance in text: AD2: L69Q
PubMed Link:
23555731
Variant Present in the following documents:
Main text
pone.0059627.pdf
View BVdb publication page