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KCNH2 c.233C>G ;(p.A78G)
Variant ID: 7-150671873-G-C
NM_000238.3(
KCNH2
):c.233C>G;(p.A78G)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Characterization of the novel mutant A78T-HERG from a long QT syndrome type 2 patient: Instability of the mutant protein and stabilization by heat shock factor 1.
Journal Of Arrhythmia
Kondo, Takehito T; Hisatome, Ichiro I; Yoshimura, Shouichi S; Mahati, Endang E; Notsu, Tomomi T; Li, Peili P; Iitsuka, Kazuhiko K; Kato, Masaru M; Ogura, Kazuyoshi K; Miake, Junichiro J; Aiba, Takeshi T; Shimizu, Wataru W; Kurata, Yasutaka Y; Sakata, Shinji S; Nakasone, Naoe N; Ninomiya, Haruaki H; Nakai, Akira A; Higaki, Katsumi K; Kawata, Yasushi Y; Shirayoshi, Yasuaki Y; Yoshida, Akio A; Yamamoto, Kazuhiro K
Publication Date: 2016-10
Variant appearance in text: HERG: A78G
PubMed Link:
27761169
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page