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KCNH2 c.1871G>C ;(p.S624T)
Variant ID: 7-150648610-C-G
NM_000238.3(
KCNH2
):c.1871G>C;(p.S624T)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Involvement of caveolin in low K+-induced endocytic degradation of cell-surface human ether-a-go-go-related gene (hERG) channels.
The Journal Of Biological Chemistry
Massaeli, Hamid H; Sun, Tao T; Li, Xian X; Shallow, Heidi H; Wu, Jimmy J; Xu, Jianmin J; Li, Wentao W; Hanson, Christian C; Guo, Jun J; Zhang, Shetuan S
Publication Date: 2010-08-27
Variant appearance in text: Kv11.1: S624T
PubMed Link:
20605793
Variant Present in the following documents:
Main text
View BVdb publication page
The 5-HT2 antagonist ketanserin is an open channel blocker of human cardiac ether-à-go-go-related gene (hERG) potassium channels.
British Journal Of Pharmacology
Tang, Q Q; Li, Z-Q ZQ; Li, W W; Guo, J J; Sun, H-Y HY; Zhang, X-H XH; Lau, C-P CP; Tse, H-F HF; Zhang, S S; Li, G-R GR
Publication Date: 2008-10
Variant appearance in text: HERG: S624T
PubMed Link:
18574455
Variant Present in the following documents:
Main text
View BVdb publication page
Na+ permeation and block of hERG potassium channels.
The Journal Of General Physiology
Gang, Hongying H; Zhang, Shetuan S
Publication Date: 2006-07
Variant appearance in text: HERG: S624T
PubMed Link:
16769794
Variant Present in the following documents:
Main text
jgp1280055.pdf
View BVdb publication page
Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels.
The Journal Of Physiology
Mullins, Franklin M FM; Stepanovic, Svetlana Z SZ; Gillani, Niloufar B NB; George, Alfred L AL; Balser, Jeffrey R JR
Publication Date: 2004-08-01
Variant appearance in text: HERG: S624T
PubMed Link:
15169846
Variant Present in the following documents:
Main text
View BVdb publication page
Extracellular sodium interacts with the HERG channel at an outer pore site.
The Journal Of General Physiology
Mullins, Franklin M FM; Stepanovic, Svetlana Z SZ; Desai, Reshma R RR; George, Alfred L AL; Balser, Jeffrey R JR
Publication Date: 2002-10
Variant appearance in text: HERG: S624T
PubMed Link:
12356854
Variant Present in the following documents:
Main text
20028589.pdf
View BVdb publication page