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MED16 c.1556A>G ;(p.Q519R)
Variant ID: 19-876978-T-C
NM_005481.2(
MED16
):c.1556A>G;(p.Q519R)
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:
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Npj Genomic Medicine
Friedman, Daniel D; Kannan, Kasthuri K; Faustin, Arline A; Shroff, Seema S; Thomas, Cheddhi C; Heguy, Adriana A; Serrano, Jonathan J; Snuderl, Matija M; Devinsky, Orrin O
Publication Date: 2018
Variant appearance in text: MED16: Q519R
PubMed Link:
29619247
Variant Present in the following documents:
41525_2018_48_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.
Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21
Variant appearance in text: MED16: Q519R
PubMed Link:
26062443
Variant Present in the following documents:
oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page