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RYR1 c.3172G>A ;(p.E1058K)
Variant ID: 19-38957032-G-A
NM_000540.2(
RYR1
):c.3172G>A;(p.E1058K)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.
British Journal Of Anaesthesia
Schiemann, A H AH; Stowell, K M KM
Publication Date: 2016-07
Variant appearance in text: RYR1: 3172G>A; E1058K
PubMed Link:
27147545
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: E1058K
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: E1058K
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: E1058K
PubMed Link:
25517095
Variant Present in the following documents:
NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page