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.




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