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.




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