HR c.180G>T ;(p.W60C)

Variant ID: 8-21986504-C-A

NM_005144.4(HR):c.180G>T;(p.W60C)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mangifera indica L. Leaf Extract in Combination With Luteolin or Quercetin Enhances VO2peak and Peak Power Output, and Preserves Skeletal Muscle Function During Ischemia-Reperfusion in Humans.

Frontiers In Physiology
Gelabert-Rebato, Miriam M; Wiebe, Julia C JC; Martin-Rincon, Marcos M; Gericke, Nigel N; Perez-Valera, Mario M; Curtelin, David D; Galvan-Alvarez, Victor V; Lopez-Rios, Laura L; Morales-Alamo, David D; Calbet, Jose A L JAL
Publication Date: 2018

Variant appearance in text: HR: W60C
PubMed Link: 29937737
Variant Present in the following documents:
  • Main text
  • fphys-09-00740.pdf
View BVdb publication page


Understanding the complex mechanisms of β2-microglobulin amyloid assembly.

The Febs Journal
Eichner, Timo T; Radford, Sheena E SE
Publication Date: 2011-10

Variant appearance in text: HR: W60C
PubMed Link: 21595827
Variant Present in the following documents:
  • febs0278-3868.pdf
View BVdb publication page