Bibliome.ai browser hg19
Search
About
Stats
FAQ
RYR1 c.8189A>G ;(p.D2730G)
Variant ID: 19-38995509-A-G
NM_000540.2(
RYR1
):c.8189A>G;(p.D2730G)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Pharmacogenomics
Sadhasivam, Senthilkumar S; Brandom, Barbara W BW; Henker, Richard A RA; McAuliffe, John J JJ
Publication Date: 2019-09
Variant appearance in text: RYR1: Asp2730Gly
PubMed Link:
31559918
Variant Present in the following documents:
Main text
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: MHS1: D2730G
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: RYR1: D2730G
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Nature
Yan, Zhen Z; Bai, Xiaochen X; Yan, Chuangye C; Wu, Jianping J; Li, Zhangqiang Z; Xie, Tian T; Peng, Wei W; Yin, Changcheng C; Li, Xueming X; Scheres, Sjors H W SHW; Shi, Yigong Y; Yan, Nieng N
Publication Date: 2015-01-01
Variant appearance in text: MHS1: D2730G
PubMed Link:
25517095
Variant Present in the following documents:
NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Molecular Genetics And Metabolism
Vladutiu, Georgirene D GD; Isackson, Paul J PJ; Kaufman, Kenneth K; Harley, John B JB; Cobb, Beth B; Christopher-Stine, Lisa L; Wortmann, Robert L RL
Publication Date: 2011
Variant appearance in text: RYR1: D2730G
PubMed Link:
21795085
Variant Present in the following documents:
Main text
View BVdb publication page