HR c.598_599delinsGC ;(p.S200A)

Variant ID: 8-21986085-CT-GC

NM_005144.4(HR):c.598_599delinsGC;(p.S200A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Hypothermia Prevents Cardiac Dysfunction during Acute Ischemia Reperfusion by Maintaining Mitochondrial Bioenergetics and by Promoting Hexokinase II Binding to Mitochondria.

Oxidative Medicine And Cellular Longevity
Sun, Jie J; Mishra, Jyotsna J; Yang, Meiying M; Stowe, David F DF; Heisner, James S JS; An, Jianzhong J; Kwok, Wai-Meng WM; Camara, Amadou K S AKS
Publication Date: 2022

Variant appearance in text: HR: S200A
PubMed Link: 35873800
Variant Present in the following documents:
  • OMCL2022-4476448.pdf
View BVdb publication page



A general chemical crosslinking strategy for structural analyses of weakly interacting proteins applied to preTCR-pMHC complexes.

The Journal Of Biological Chemistry
Mizsei, RĂ©ka R; Li, Xiaolong X; Chen, Wan-Na WN; Szabo, Monika M; Wang, Jia-Huai JH; Wagner, Gerhard G; Reinherz, Ellis L EL; Mallis, Robert J RJ
Publication Date: 2021

Variant appearance in text: HR: S200A
PubMed Link: 33837736
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Impaired cardiac contractile function in arginine:glycine amidinotransferase knockout mice devoid of creatine is rescued by homoarginine but not creatine.

Cardiovascular Research
Faller, Kiterie M E KME; Atzler, Dorothee D; McAndrew, Debra J DJ; Zervou, Sevasti S; Whittington, Hannah J HJ; Simon, Jillian N JN; Aksentijevic, Dunja D; Ten Hove, Michiel M; Choe, Chi-Un CU; Isbrandt, Dirk D; Casadei, Barbara B; Schneider, Jurgen E JE; Neubauer, Stefan S; Lygate, Craig A CA
Publication Date: 2018-03-01

Variant appearance in text: HR: S200A
PubMed Link: 29236952
Variant Present in the following documents:
  • cvx242.pdf
View BVdb publication page