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KCNH2 c.2668T>G ;(p.S890A)
Variant ID: 7-150645556-A-C
NM_000238.3(
KCNH2
):c.2668T>G;(p.S890A)
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:
Identification of small-molecule ion channel modulators in C. elegans channelopathy models.
Nature Communications
Jiang, Qiang Q; Li, Kai K; Lu, Wen-Jing WJ; Li, Shuang S; Chen, Xin X; Liu, Xi-Juan XJ; Yuan, Jie J; Ding, Qiurong Q; Lan, Feng F; Cai, Shi-Qing SQ
Publication Date: 2018-09-26
Variant appearance in text: KCNH2: S890A
PubMed Link:
30258187
Variant Present in the following documents:
Main text
41467_2018_Article_6514.pdf
View BVdb publication page
Long QT2 mutation on the Kv11.1 ion channel inhibits current activity by ablating a protein kinase Cα consensus site.
Molecular Pharmacology
Donovan, Alexander J AJ; Lansu, Katherine K; Williams, Jason G JG; Denning, Mitchell F MF; Gentile, Saverio S
Publication Date: 2012-09
Variant appearance in text: Kv11.1: S890A
PubMed Link:
22653970
Variant Present in the following documents:
Main text
View BVdb publication page
Mechanisms underlying the protein-kinase mediated regulation of the HERG potassium channel synthesis.
Biochimica Et Biophysica Acta
Krishnan, Yamini Y; Li, Yan Y; Zheng, Renjian R; Kanda, Vikram V; McDonald, Thomas V TV
Publication Date: 2012-08
Variant appearance in text: HERG: S890A
PubMed Link:
22613764
Variant Present in the following documents:
Main text
View BVdb publication page
PKA phosphorylation of HERG protein regulates the rate of channel synthesis.
American Journal Of Physiology. Heart And Circulatory Physiology
Chen, Jian J; Sroubek, Jakub J; Krishnan, Yamini Y; Li, Yan Y; Bian, Jinsong J; McDonald, Thomas V TV
Publication Date: 2009-05
Variant appearance in text: HERG: S890A
PubMed Link:
19234087
Variant Present in the following documents:
Main text
View BVdb publication page
14-3-3 amplifies and prolongs adrenergic stimulation of HERG K+ channel activity.
The Embo Journal
Kagan, Anna A; Melman, Yonathan F YF; Krumerman, Andrew A; McDonald, Thomas V TV
Publication Date: 2002-04-15
Variant appearance in text: HERG: S890A
PubMed Link:
11953308
Variant Present in the following documents:
Main text
View BVdb publication page