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SCN1A c.1804G>A ;(p.E602K)
Variant ID: 2-166900418-C-T
NM_001165963.1(
SCN1A
):c.1804G>A;(p.E602K)
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:
Precision medicine and therapies of the future.
Epilepsia
Sisodiya, Sanjay M SM
Publication Date: 2021-03
Variant appearance in text: SCN1A: 1804G>A; Glu602Lys
PubMed Link:
32776321
Variant Present in the following documents:
Main text
EPI-62-S90.pdf
View BVdb publication page
Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
Gigascience
Cheng, Caixia C; Cui, Heyang H; Zhang, Ling L; Jia, Zhiwu Z; Song, Bin B; Wang, Fang F; Li, Yaoping Y; Liu, Jing J; Kong, Pengzhou P; Shi, Ruyi R; Bi, Yanghui Y; Yang, Bin B; Wang, Juan J; Zhao, Zhenxiang Z; Zhang, Yanyan Y; Hu, Xiaoling X; Yang, Jie J; He, Chanting C; Zhao, Zhiping Z; Wang, Jinfen J; Xi, Yanfeng Y; Xu, Enwei E; Li, Guodong G; Guo, Shiping S; Chen, Yunqing Y; Yang, Xiaofeng X; Chen, Xing X; Liang, Jianfang J; Guo, Jiansheng J; Cheng, Xiaolong X; Wang, Chuangui C; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2016
Variant appearance in text: SCN1A: 1804G>A; E602K
PubMed Link:
26759717
Variant Present in the following documents:
13742_2015_107_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page