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KCNH2 c.3232_3233delinsGC ;(p.Y1078A)
Variant ID: 7-150644062-TA-GC
NM_000238.3(
KCNH2
):c.3232_3233delinsGC;(p.Y1078A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The serum- and glucocorticoid-inducible kinases SGK1 and SGK3 regulate hERG channel expression via ubiquitin ligase Nedd4-2 and GTPase Rab11.
The Journal Of Biological Chemistry
Lamothe, Shawn M SM; Zhang, Shetuan S
Publication Date: 2013-05-24
Variant appearance in text: LQT2: Y1078A
PubMed Link:
23589291
Variant Present in the following documents:
Main text
View BVdb publication page