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.




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