KCNH2 c.1583G>C ;(p.R528P)

Variant ID: 7-150648898-C-G

NM_000238.3(KCNH2):c.1583G>C;(p.R528P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: R528P
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
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: R528P
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: R528P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: Arg528Pro
PubMed Link: 20809527
Variant Present in the following documents:
  • Main text
  • humu0031-E1801.pdf
View BVdb publication page