APOB c.13451C>A ;(p.T4484K)

Variant ID: 2-21224843-G-T

NM_000384.2(APOB):c.13451C>A;(p.T4484K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs12713450
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs12713450
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



Exome sequencing of three cases of familial exceptional longevity.

Aging Cell
Cash, Timothy P TP; Pita, Guillermo G; Domínguez, Orlando O; Alonso, Maria R MR; Moreno, Leticia T LT; Borrás, Consuelo C; Rodríguez-Mañas, Leocadio L; Santiago, Catalina C; Garatachea, Nuria N; Lucia, Alejandro A; Avellana, Juan A JA; Viña, Jose J; González-Neira, Anna A; Serrano, Manuel M
Publication Date: 2014-12

Variant appearance in text: rs12713450
PubMed Link: 25116423
Variant Present in the following documents:
  • Main text
  • acel0013-1087.pdf
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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: rs12713450
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
View BVdb publication page