Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN5A c.1378T>G ;(p.S460A)
Variant ID: 3-38646360-A-C
NM_000335.4(
SCN5A
):c.1378T>G;(p.S460A)
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:
A Heart Failure-Associated SCN5A Splice Variant Leads to a Reduction in Sodium Current Through Coupled-Gating With the Wild-Type Channel.
Frontiers In Physiology
Zheng, Yang Y; Wan, Xiaoping X; Yang, Dandan D; Ramirez-Navarro, Angelina A; Liu, Haiyan H; Fu, Ji-Dong JD; Deschênes, Isabelle I
Publication Date: 2021
Variant appearance in text: SCN5A: S460A
PubMed Link:
33828490
Variant Present in the following documents:
Main text
fphys-12-661429.pdf
View BVdb publication page
Voltage-gated sodium channels assemble and gate as dimers.
Nature Communications
Clatot, Jérôme J; Hoshi, Malcolm M; Wan, Xiaoping X; Liu, Haiyan H; Jain, Ankur A; Shinlapawittayatorn, Krekwit K; Marionneau, Céline C; Ficker, Eckhard E; Ha, Taekjip T; Deschênes, Isabelle I
Publication Date: 2017-12-12
Variant appearance in text: SCN5A: S460A
PubMed Link:
29233994
Variant Present in the following documents:
Main text
41467_2017_Article_2262.pdf
41467_2017_2262_MOESM2_ESM.pdf
41467_2017_2262_MOESM1_ESM.pdf
View BVdb publication page