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KCNH2 c.2584_2585delinsGC ;(p.L862A)
Variant ID: 7-150645951-AG-GC
NM_000238.3(
KCNH2
):c.2584_2585delinsGC;(p.L862A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The hERG potassium channel intrinsic ligand regulates N- and C-terminal interactions and channel closure.
The Journal Of General Physiology
Codding, Sara J SJ; Trudeau, Matthew C MC
Publication Date: 2019-04-01
Variant appearance in text: KCNH2: L862A
PubMed Link:
30425124
Variant Present in the following documents:
JGP_201812129.pdf
View BVdb publication page
C-terminal β9-strand of the cyclic nucleotide-binding homology domain stabilizes activated states of Kv11.1 channels.
Plos One
Ng, Chai Ann CA; Ke, Ying Y; Perry, Matthew D MD; Tan, Peter S PS; Hill, Adam P AP; Vandenberg, Jamie I JI
Publication Date: 2013
Variant appearance in text: Kv11.1: L862A
PubMed Link:
24204727
Variant Present in the following documents:
Main text
pone.0077032.pdf
View BVdb publication page
Structure of the C-terminal region of an ERG channel and functional implications.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Brelidze, Tinatin I TI; Gianulis, Elena C EC; DiMaio, Frank F; Trudeau, Matthew C MC; Zagotta, William N WN
Publication Date: 2013-07-09
Variant appearance in text: Kv11.1: L862A
PubMed Link:
23801759
Variant Present in the following documents:
Main text
View BVdb publication page