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SCN1A c.5710C>G ;(p.Q1904E)
Variant ID: 2-166848075-G-C
NM_001165963.1(
SCN1A
):c.5710C>G;(p.Q1904E)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Crystal structure of the ternary complex of a NaV C-terminal domain, a fibroblast growth factor homologous factor, and calmodulin.
Structure (London, England : 1993)
Wang, Chaojian C; Chung, Ben C BC; Yan, Haidun H; Lee, Seok-Yong SY; Pitt, Geoffrey S GS
Publication Date: 2012-07-03
Variant appearance in text: Nav1.1: Q1904E
PubMed Link:
22705208
Variant Present in the following documents:
Main text
View BVdb publication page