HR c.461_462delinsAT ;(p.R154H)

Variant ID: 8-21986222-TC-AT

NM_005144.4(HR):c.461_462delinsAT;(p.R154H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Towards a comprehensive view of 8-oxo-7,8-dihydro-2'-deoxyguanosine: Highlighting the intertwined roles of DNA damage and epigenetics in genomic instability.

Dna Repair
Gorini, Francesca F; Scala, Giovanni G; Cooke, Marcus S MS; Majello, Barbara B; Amente, Stefano S
Publication Date: 2021-01

Variant appearance in text: HR: R154H
PubMed Link: 33285475
Variant Present in the following documents:
  • nihms-1669495.pdf
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: HR: R154H
PubMed Link: 30076208
Variant Present in the following documents:
  • jlrP086710.pdf
View BVdb publication page



Crystallographic and biochemical studies revealing the structural basis for antizyme inhibitor function.

Protein Science : A Publication Of The Protein Society
Albeck, Shira S; Dym, Orly O; Unger, Tamar T; Snapir, Zohar Z; Bercovich, Zippy Z; Kahana, Chaim C
Publication Date: 2008-05

Variant appearance in text: HR: R154H
PubMed Link: 18369191
Variant Present in the following documents:
  • Main text
View BVdb publication page