MYLIP c.796C>T ;(p.R266*)

Variant ID: 6-16144063-C-T

NM_013262.3(MYLIP):c.796C>T;(p.R266*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic Research In Cardiology
Schulz, Rainer R; Schlüter, Klaus-Dieter KD; Laufs, Ulrich U
Publication Date: 2015-03

Variant appearance in text: IDOL: Arg266X
PubMed Link: 25600226
Variant Present in the following documents:
  • Main text
  • 395_2015_Article_463.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: MYLIP: R266*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page