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KCNH2 c.2398G>T ;(p.G800W)
Variant ID: 7-150647256-C-A
NM_000238.3(
KCNH2
):c.2398G>T;(p.G800W)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06
Variant appearance in text: KCNH2: 2398G>T
PubMed Link:
37324772
Variant Present in the following documents:
Main text
JOA3-39-430.pdf
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: G800W
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
View BVdb publication page
The structural mechanism of KCNH-channel regulation by the eag domain.
Nature
Haitin, Yoni Y; Carlson, Anne E AE; Zagotta, William N WN
Publication Date: 2013-09-19
Variant appearance in text: LQT2: G800W
PubMed Link:
23975098
Variant Present in the following documents:
Main text
nihms507713.pdf
View BVdb publication page