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SCN5A c.1654G>A ;(p.G552R)
Variant ID: 3-38645439-C-T
NM_000335.4(
SCN5A
):c.1654G>A;(p.G552R)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Predicting changes to INa from missense mutations in human SCN5A.
Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24
Variant appearance in text: SCN5A: G552R
PubMed Link:
30143662
Variant Present in the following documents:
41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
SchÀrfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs3918389
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: LQT3: G552R
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: SCN5A: G552R
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
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: N/A
PubMed Link:
26659599
Variant Present in the following documents:
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: SCN5A: G552R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
Circulation. Cardiovascular Genetics
Hoshi, Malcolm M; Du, Xi X XX; Shinlapawittayatorn, Krekwit K; Liu, Haiyan H; Chai, Sam S; Wan, Xiaoping X; Ficker, Eckhard E; DeschĂȘnes, Isabelle I
Publication Date: 2014-04
Variant appearance in text: SCN5A: G552R
PubMed Link:
24573164
Variant Present in the following documents:
Main text
View BVdb publication page