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KCNH2 c.1575G>T ;(p.K525N)
Variant ID: 7-150648906-C-A
NM_000238.3(
KCNH2
):c.1575G>T;(p.K525N)
This variant was identified in 7 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: 1575G>T; rs199472913
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: K525N
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: KCNH2: K525N
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: LQT2: K525N
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: KCNH2: K525N
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Pathophysiological role of omega pore current in channelopathies.
Frontiers In Pharmacology
Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F
Publication Date: 2012
Variant appearance in text: KCNH2: K525N
PubMed Link:
22701429
Variant Present in the following documents:
Main text
fphar-03-00112.pdf
View BVdb publication page
LQTS gene LOVD database.
Human Mutation
Zhang, Tao T; Moss, Arthur A; Cong, Peikuan P; Pan, Min M; Chang, Bingxi B; Zheng, Liangrong L; Fang, Quan Q; Zareba, Wojciech W; Robinson, Jennifer J; Lin, Changsong C; Li, Zhongxiang Z; Wei, Junfang J; Zeng, Qiang Q; , ; , ; Qi, Ming M
Publication Date: 2010-11
Variant appearance in text: KCNH2: Lys525Asn
PubMed Link:
20809527
Variant Present in the following documents:
Main text
humu0031-E1801.pdf
View BVdb publication page