Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN5A c.559A>T ;(p.T187S)
Variant ID: 3-38662386-T-A
NM_000335.4(
SCN5A
):c.559A>T;(p.T187S)
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:
Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel.
Frontiers In Pharmacology
Korkosh, Vyacheslav S VS; Zaytseva, Anastasia K AK; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021
Variant appearance in text: LQT3: T187S
PubMed Link:
34803699
Variant Present in the following documents:
fphar-12-756415.pdf
View BVdb publication page
Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing.
Nature Communications
Romero-Hidalgo, Sandra S; Ochoa-Leyva, Adrián A; Garcíarrubio, Alejandro A; Acuña-Alonzo, Victor V; Antúnez-Argüelles, Erika E; Balcazar-Quintero, Martha M; Barquera-Lozano, Rodrigo R; Carnevale, Alessandra A; Cornejo-Granados, Fernanda F; Fernández-López, Juan Carlos JC; García-Herrera, Rodrigo R; García-Ortíz, Humberto H; Granados-Silvestre, Ángeles Á; Granados, Julio J; Guerrero-Romero, Fernando F; Hernández-Lemus, Enrique E; León-Mimila, Paola P; Macín-Pérez, Gastón G; Martínez-Hernández, Angélica A; Menjivar, Marta M; Morett, Enrique E; Orozco, Lorena L; Ortíz-López, Guadalupe G; Pérez-Villatoro, Fernando F; Rivera-Morales, Javier J; Riveros-McKay, Fernando F; Villalobos-Comparán, Marisela M; Villamil-Ramírez, Hugo H; Villarreal-Molina, Teresa T; Canizales-Quinteros, Samuel S; Soberón, Xavier X
Publication Date: 2017-10-18
Variant appearance in text: SCN5A: T187S
PubMed Link:
29044207
Variant Present in the following documents:
Main text
41467_2017_Article_1194.pdf
View BVdb publication page