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APOB c.1661C>G ;(p.P554R)
Variant ID: 2-21251367-G-C
NM_000384.2(
APOB
):c.1661C>G;(p.P554R)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.
Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05
Variant appearance in text: rs12714214
PubMed Link:
32457125
Variant Present in the following documents:
jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page
Generalized multifactor dimensionality reduction approaches to identification of genetic interactions underlying ordinal traits.
Genetic Epidemiology
Hou, Ting-Ting TT; Lin, Feng F; Bai, Shasha S; Cleves, Mario A MA; Xu, Hai-Ming HM; Lou, Xiang-Yang XY
Publication Date: 2019-02
Variant appearance in text: rs12714214
PubMed Link:
30387901
Variant Present in the following documents:
Main text
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: rs12714214
PubMed Link:
30076208
Variant Present in the following documents:
10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs12714214
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15
Variant appearance in text: rs12714214
PubMed Link:
19336475
Variant Present in the following documents:
ddp159_1.pdf
View BVdb publication page