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SCN1A c.3813G>T ;(p.W1271C)
Variant ID: 2-166868685-C-A
NM_001165963.1(
SCN1A
):c.3813G>T;(p.W1271C)
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:
Interpreting the functional role of a novel interaction motif in prokaryotic sodium channels.
The Journal Of General Physiology
Sula, Altin A; Wallace, B A BA
Publication Date: 2017-06-05
Variant appearance in text: Nav1.1: W1271C
PubMed Link:
28522439
Variant Present in the following documents:
Main text
JGP_201611740.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: W1271C
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page