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SCN1A c.526_527delinsCA ;(p.R176Q)
Variant ID: 2-166911223-CT-TG
NM_001165963.1(
SCN1A
):c.526_527delinsCA;(p.R176Q)
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:
PepNN: a deep attention model for the identification of peptide binding sites.
Communications Biology
Abdin, Osama O; Nim, Satra S; Wen, Han H; Kim, Philip M PM
Publication Date: 2022-05-26
Variant appearance in text: Nav1.1: R176Q
PubMed Link:
35618814
Variant Present in the following documents:
42003_2022_3445_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017
Variant appearance in text: SCN1A: R176Q
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page
Channelopathies: summary of the hot topic keynotes session.
Neurotoxicology
Magby, Jason P JP; Neal, April P AP; Atchison, William D WD; Pessah, Isaac P IP; Shafer, Timothy J TJ
Publication Date: 2011-10
Variant appearance in text: SCN1A: R176Q
PubMed Link:
21756936
Variant Present in the following documents:
Main text
View BVdb publication page