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SCN4A c.2012T>C ;(p.F671S)
Variant ID: 17-62036632-A-G
NM_000334.4(
SCN4A
):c.2012T>C;(p.F671S)
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:
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Journal Of Neuromuscular Diseases
Desaphy, Jean-François JF; Altamura, Concetta C; Vicart, Savine S; Fontaine, Bertrand B
Publication Date: 2021
Variant appearance in text: SCN4A: Phe671Ser
PubMed Link:
33325393
Variant Present in the following documents:
Main text
jnd-8-jnd200582.pdf
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: HYPP: F671S
PubMed Link:
28150151
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: HYPP: F671S
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: SCN4A: F671S
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page