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SCN1A c.1155A>C ;(p.E385D)
Variant ID: 2-166904152-T-G
NM_001165963.1(
SCN1A
):c.1155A>C;(p.E385D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The landscape of driver mutations in cutaneous squamous cell carcinoma.
Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16
Variant appearance in text: SCN1A: E385D
PubMed Link:
34272401
Variant Present in the following documents:
41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Incidence of Dravet Syndrome in a US Population.
Pediatrics
Wu, Yvonne W YW; Sullivan, Joseph J; McDaniel, Sharon S SS; Meisler, Miriam H MH; Walsh, Eileen M EM; Li, Sherian Xu SX; Kuzniewicz, Michael W MW
Publication Date: 2015-11
Variant appearance in text: SCN1A: Glu385Asp
PubMed Link:
26438699
Variant Present in the following documents:
Main text
View BVdb publication page
Protein domain-level landscape of cancer-type-specific somatic mutations.
Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03
Variant appearance in text: SCN1A: E385D
PubMed Link:
25794154
Variant Present in the following documents:
pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page