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RYR1 c.463C>A ;(p.Q155K)
Variant ID: 19-38934827-C-A
NM_000540.2(
RYR1
):c.463C>A;(p.Q155K)
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:
Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.
Frontiers In Physiology
Zhang, Yadan Y; Rabesahala de Meritens, Camille C; Beckmann, Astrid A; Lai, F Anthony FA; Zissimopoulos, Spyros S
Publication Date: 2022
Variant appearance in text: RYR1: Q155K
PubMed Link:
36311249
Variant Present in the following documents:
Main text
fphys-13-1032132.pdf
View BVdb publication page
Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.
The Journal Of General Physiology
Yamazawa, Toshiko T; Ogawa, Haruo H; Murayama, Takashi T; Yamaguchi, Maki M; Oyamada, Hideto H; Suzuki, Junji J; Kurebayashi, Nagomi N; Kanemaru, Kazunori K; Oguchi, Katsuji K; Sakurai, Takashi T; Iino, Masamitsu M
Publication Date: 2020-01-06
Variant appearance in text: RYR1: Q155K
PubMed Link:
31841587
Variant Present in the following documents:
Main text
JGP_201812235.pdf
View BVdb publication page