SCN1A c.4515G>C ;(p.K1505N)

Variant ID: 2-166852589-C-G

NM_001165963.1(SCN1A):c.4515G>C;(p.K1505N)

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:

When the Gates Swing Open Only: Arrhythmia Mutations That Target the Fast Inactivation Gate of Nav1.5.

Cells
Gamal El-Din, Tamer M TM
Publication Date: 2022-11-22

Variant appearance in text: SCN1A: K1505N
PubMed Link: 36496974
Variant Present in the following documents:
  • Main text
  • cells-11-03714.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: Nav1.1: K1505N
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page