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KCNH2 c.1615_1616delinsGC ;(p.L539A)
Variant ID: 7-150648865-AG-GC
NM_000238.3(
KCNH2
):c.1615_1616delinsGC;(p.L539A)
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:
The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.
Biophysical Journal
Dou, Ying Y; Macdonald, Logan C LC; Wu, Yue Y; Fedida, David D
Publication Date: 2017-11-07
Variant appearance in text: Kv11.1: L539A
PubMed Link:
29117522
Variant Present in the following documents:
Main text
View BVdb publication page
Direct interaction of eag domains and cyclic nucleotide-binding homology domains regulate deactivation gating in hERG channels.
The Journal Of General Physiology
Gianulis, Elena C EC; Liu, Qiangni Q; Trudeau, Matthew C MC
Publication Date: 2013-10
Variant appearance in text: HERG: L539A
PubMed Link:
24043860
Variant Present in the following documents:
JGP_201310995.pdf
View BVdb publication page