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KCNH2 c.1238T>C ;(p.L413P)
Variant ID: 7-150649832-A-G
NM_000238.3(
KCNH2
):c.1238T>C;(p.L413P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: L413P
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
View BVdb publication page
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Human Mutation
Liu, Wenling W; Yang, Junguo J; Hu, Dayi D; Kang, Cailian C; Li, Cuilan C; Zhang, Shuoyan S; Li, Ping P; Chen, Zhijian Z; Qin, Xuguang X; Ying, Kang K; Li, Yuntian Y; Li, Yushu Y; Li, Zhiming Z; Cheng, Xin X; Li, Lei L; Qi, Yu Y; Chen, Shenghan S; Wang, Qing Q
Publication Date: 2002-12
Variant appearance in text: KCNH2: L413P
PubMed Link:
12442276
Variant Present in the following documents:
Main text
View BVdb publication page