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KCNH2 c.1723G>C ;(p.E575Q)
Variant ID: 7-150648758-C-G
NM_000238.3(
KCNH2
):c.1723G>C;(p.E575Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IKr) in cardiomyocytes derived from hiPSCs.
The Journal Of Biological Chemistry
Ukachukwu, Chiamaka U CU; Jimenez-Vazquez, Eric N EN; Jain, Abhilasha A; Jones, David K DK
Publication Date: 2022-12-07
Variant appearance in text: KCNH2: E575Q
PubMed Link:
36496073
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Identification of a proton sensor that regulates conductance and open time of single hERG channels.
Scientific Reports
Wilson, Stacey L SL; Dempsey, Christopher E CE; Hancox, Jules C JC; Marrion, Neil V NV
Publication Date: 2019-12-27
Variant appearance in text: KCNH2: E575Q
PubMed Link:
31882846
Variant Present in the following documents:
Main text
41598_2019_Article_56081.pdf
View BVdb publication page