SCN5A c.1501G>C ;(p.D501H)

Variant ID: 3-38646237-C-G

NM_000335.4(SCN5A):c.1501G>C;(p.D501H)

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: D501H
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page


Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Frontiers In Pharmacology
Groome, James R JR; Bayless-Edwards, Landon L
Publication Date: 2020

Variant appearance in text: SCN5A: D501H
PubMed Link: 32180723
Variant Present in the following documents:
  • Main text
View BVdb publication page