RYR1 c.11541G>C ;(p.E3847D)

Variant ID: 19-39026661-G-C

NM_000540.2(RYR1):c.11541G>C;(p.E3847D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Regulatory mechanisms of ryanodine receptor/Ca2+ release channel revealed by recent advancements in structural studies.

Journal Of Muscle Research And Cell Motility
Ogawa, Haruo H; Kurebayashi, Nagomi N; Yamazawa, Toshiko T; Murayama, Takashi T
Publication Date: 2021-06

Variant appearance in text: RYR1: E3847D
PubMed Link: 32040690
Variant Present in the following documents:
  • 10974_2020_Article_9575.pdf
View BVdb publication page



A tryptophan residue in the caffeine-binding site of the ryanodine receptor regulates Ca2+ sensitivity.

Communications Biology
Murayama, Takashi T; Ogawa, Haruo H; Kurebayashi, Nagomi N; Ohno, Seiko S; Horie, Minoru M; Sakurai, Takashi T
Publication Date: 2018

Variant appearance in text: RYR1: E3847D
PubMed Link: 30271978
Variant Present in the following documents:
  • Main text
  • 42003_2018_Article_103.pdf
View BVdb publication page