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