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KCNH2 c.3115G>T ;(p.E1039*)
Variant ID: 7-150644453-C-A
NM_000238.3(
KCNH2
):c.3115G>T;(p.E1039*)
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:
A prognostic risk model for glioma patients by systematic evaluation of genomic variations.
Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22
Variant appearance in text: KCNH2: E1039*
PubMed Link:
36536675
Variant Present in the following documents:
mmc3.xls, sheet 1
View BVdb publication page
A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.
Scientific Reports
Wu, Jie J; Mizusawa, Yuka Y; Ohno, Seiko S; Ding, Wei-Guang WG; Higaki, Takashi T; Wang, Qi Q; Kohjitani, Hirohiko H; Makiyama, Takeru T; Itoh, Hideki H; Toyoda, Futoshi F; James, Andrew F AF; Hancox, Jules C JC; Matsuura, Hiroshi H; Horie, Minoru M
Publication Date: 2018-02-15
Variant appearance in text: LQT2: E1039X
PubMed Link:
29449639
Variant Present in the following documents:
Main text
41598_2018_Article_21442.pdf
View BVdb publication page