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KCNH2 c.1996_1998delinsTGT ;(p.L666C)
Variant ID: 7-150648156-CAG-ACA
NM_000238.3(
KCNH2
):c.1996_1998delinsTGT;(p.L666C)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular dynamics simulations suggest possible activation and deactivation pathways in the hERG channel.
Communications Biology
Costa, Flavio F; Guardiani, Carlo C; Giacomello, Alberto A
Publication Date: 2022-02-24
Variant appearance in text: HERG: L666C
PubMed Link:
35210539
Variant Present in the following documents:
42003_2022_3074_MOESM1_ESM.pdf
View BVdb publication page
An Update on the Structure of hERG.
Frontiers In Pharmacology
Butler, Andrew A; Helliwell, Matthew V MV; Zhang, Yihong Y; Hancox, Jules C JC; Dempsey, Christopher E CE
Publication Date: 2019
Variant appearance in text: KCNH2: L666C
PubMed Link:
32038248
Variant Present in the following documents:
Main text
fphar-10-01572.pdf
View BVdb publication page
hERG S4-S5 linker acts as a voltage-dependent ligand that binds to the activation gate and locks it in a closed state.
Scientific Reports
Malak, Olfat A OA; Es-Salah-Lamoureux, Zeineb Z; Loussouarn, Gildas G
Publication Date: 2017-03-02
Variant appearance in text: KCNH2: L666C
PubMed Link:
28273916
Variant Present in the following documents:
41598_2017_155_MOESM1_ESM.pdf
41598_2017_Article_155.pdf
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: L666C
PubMed Link:
24043860
Variant Present in the following documents:
JGP_201310995.pdf
View BVdb publication page
hERG gating microdomains defined by S6 mutagenesis and molecular modeling.
The Journal Of General Physiology
Wynia-Smith, Sarah L SL; Gillian-Daniel, Anne Lynn AL; Satyshur, Kenneth A KA; Robertson, Gail A GA
Publication Date: 2008-11
Variant appearance in text: KCNH2: L666C
PubMed Link:
18955593
Variant Present in the following documents:
jgp1320507.pdf
View BVdb publication page