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KCNH2 c.232G>A ;(p.A78T)
Variant ID: 7-150671874-C-T
NM_000238.3(
KCNH2
):c.232G>A;(p.A78T)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variants in African-American and Hispanic patients with breast cancer.
Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02
Variant appearance in text: KCNH2: 232G>A
PubMed Link:
36644153
Variant Present in the following documents:
Supplementary_Data5.xlsx, sheet 1
View BVdb publication page
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: LQT2: A78T
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
Multiple Dynamical Mechanisms of Phase-2 Early Afterdepolarizations in a Human Ventricular Myocyte Model: Involvement of Spontaneous SR Ca 2+ Release.
Frontiers In Physiology
Kurata, Yasutaka Y; Tsumoto, Kunichika K; Hayashi, Kenshi K; Hisatome, Ichiro I; Kuda, Yuhichi Y; Tanida, Mamoru M
Publication Date: 2019
Variant appearance in text: LQT2: A78T
PubMed Link:
31998140
Variant Present in the following documents:
fphys-10-01545.pdf
View BVdb publication page
Molecular mechanisms underlying the pilsicainide-induced stabilization of hERG proteins in transfected mammalian cells.
Journal Of Arrhythmia
Onohara, Takeshi T; Hisatome, Ichiro I; Kurata, Yasutaka Y; Li, Peili P; Notsu, Tomomi T; Morikawa, Kumi K; Otani, Naoyuki N; Yoshida, Akio A; Iitsuka, Kazuhiko K; Kato, Masaru M; Miake, Junichiro J; Ninomiya, Haruaki H; Higaki, Katsumi K; Shirayoshi, Yasuaki Y; Nishihara, Takashi T; Itoh, Toshiyuki T; Nakamura, Yoshinobu Y; Nishimura, Motonobu M
Publication Date: 2017-06
Variant appearance in text: HERG: A78T
PubMed Link:
28607619
Variant Present in the following documents:
main.pdf
View BVdb publication page
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: A78T
PubMed Link:
27761169
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page