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SCN1A c.2607G>T ;(p.L869F)
Variant ID: 2-166894625-C-A
NM_001165963.1(
SCN1A
):c.2607G>T;(p.L869F)
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:
L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.
Membranes
Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021-08-07
Variant appearance in text: SCN1A: L869F
PubMed Link:
34436362
Variant Present in the following documents:
Main text
membranes-11-00599.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: L869F
PubMed Link:
28150151
Variant Present in the following documents:
Main text
View BVdb publication page