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SCN5A c.1238C>A ;(p.A413E)
Variant ID: 3-38647542-G-T
NM_000335.4(
SCN5A
):c.1238C>A;(p.A413E)
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:
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: SCN5A: A413E
PubMed Link:
32431610
Variant Present in the following documents:
Main text
Table_1.xlsx, sheet 1
fphar-11-00550.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: LQT3: A413E
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page