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KCNH2 c.1901C>G ;(p.T634S)
Variant ID: 7-150648580-G-C
NM_000238.3(
KCNH2
):c.1901C>G;(p.T634S)
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:
What Is the Potential for Lumacaftor as a Chemical Chaperone in Promoting hERG Trafficking?
Frontiers In Cardiovascular Medicine
Zheng, Zequn Z; Song, Yongfei Y; Lian, Jiangfang J
Publication Date: 2022
Variant appearance in text: KCNH2: T634S
PubMed Link:
35282377
Variant Present in the following documents:
Main text
fcvm-09-801927.pdf
View BVdb publication page
Serine mutation of a conserved threonine in the hERG K+ channel S6-pore region leads to loss-of-function through trafficking impairment.
Biochemical And Biophysical Research Communications
Al-Moubarak, Ehab E; Zhang, Yihong Y; Dempsey, Christopher E CE; Zhang, Henggui H; Harmer, Stephen C SC; Hancox, Jules C JC
Publication Date: 2020-06-11
Variant appearance in text: LQT2: 1901C>G
PubMed Link:
32321643
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page