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SCN1A c.2488G>T ;(p.E830*)
Variant ID: 2-166896034-C-A
NM_001165963.1(
SCN1A
):c.2488G>T;(p.E830*)
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:
Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.
Nature Communications
Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX
Publication Date: 2021-05-24
Variant appearance in text: SCN1A: 2488G>T; E830*; rs1553542321
PubMed Link:
34031426
Variant Present in the following documents:
41467_2021_23379_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
Plos One
Zhang, Yujia Y; Kong, Weijing W; Gao, Yang Y; Liu, Xiaoyan X; Gao, Kai K; Xie, Han H; Wu, Ye Y; Zhang, Yuehua Y; Wang, Jingmin J; Gao, Feng F; Wu, Xiru X; Jiang, Yuwu Y
Publication Date: 2015
Variant appearance in text: SCN1A: 2488G>T; Glu830Ter
PubMed Link:
26544041
Variant Present in the following documents:
Main text
pone.0141782.pdf
View BVdb publication page