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.




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