RYR1 c.8527_8529delinsGAC ;(p.S2843D)

Variant ID: 19-38996572-TCA-GAC

NM_000540.2(RYR1):c.8527_8529delinsGAC;(p.S2843D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Review of RyR1 pathway and associated pathomechanisms.

Acta Neuropathologica Communications
Witherspoon, Jessica W JW; Meilleur, Katherine G KG
Publication Date: 2016-11-17

Variant appearance in text: RYR1: S2843D
PubMed Link: 27855725
Variant Present in the following documents:
  • Main text
  • 40478_2016_Article_392.pdf
View BVdb publication page



Crystal structures of ryanodine receptor SPRY1 and tandem-repeat domains reveal a critical FKBP12 binding determinant.

Nature Communications
Yuchi, Zhiguang Z; Yuen, Siobhan M Wong King SM; Lau, Kelvin K; Underhill, Ainsley Q AQ; Cornea, Razvan L RL; Fessenden, James D JD; Van Petegem, Filip F
Publication Date: 2015-08-06

Variant appearance in text: RYR1: S2843D
PubMed Link: 26245150
Variant Present in the following documents:
  • ncomms8947.pdf
View BVdb publication page



Regulation of Ryanodine Receptor Ion Channels Through Posttranslational Modifications.

Current Topics In Membranes
Meissner, Gerhard G
Publication Date: 2010

Variant appearance in text: RYR1: S2843D
PubMed Link: 21666757
Variant Present in the following documents:
  • Main text
View BVdb publication page