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KCNH2 c.34_35delinsGC ;(p.N12A)
Variant ID: 7-150674967-TT-GC
NM_000238.3(
KCNH2
):c.34_35delinsGC;(p.N12A)
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:
Multiple interactions between cytoplasmic domains regulate slow deactivation of Kv11.1 channels.
The Journal Of Biological Chemistry
Ng, Chai Ann CA; Phan, Kevin K; Hill, Adam P AP; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2014-09-12
Variant appearance in text: Kv11.1: N12A
PubMed Link:
25074935
Variant Present in the following documents:
Main text
View BVdb publication page
Voltage-sensing domain mode shift is coupled to the activation gate by the N-terminal tail of hERG channels.
The Journal Of General Physiology
Tan, Peter S PS; Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI; Hill, Adam P AP
Publication Date: 2012-09
Variant appearance in text: HERG: N12A
PubMed Link:
22891279
Variant Present in the following documents:
supp_jgp.201110761_JGP_201110761_sm.pdf
View BVdb publication page