SCN5A c.525G>T ;(p.K175N)

Variant ID: 3-38662420-C-A

NM_000335.4(SCN5A):c.525G>T;(p.K175N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; BrĂ¼nger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN5A: K175N
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



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: K175N
PubMed Link: 34803699
Variant Present in the following documents:
  • fphar-12-756415.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: K175N
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page