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KCNH2 c.2584_2585delinsGG ;(p.L862G)
Variant ID: 7-150645951-AG-CC
NM_000238.3(
KCNH2
):c.2584_2585delinsGG;(p.L862G)
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:
Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.
The Journal Of Biological Chemistry
Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI
Publication Date: 2022-01
Variant appearance in text: LQT2: L862G
PubMed Link:
34801551
Variant Present in the following documents:
main.pdf
View BVdb publication page
Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.
The Journal Of Biological Chemistry
Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI
Publication Date: 2021-11-18
Variant appearance in text: LQT2: L862G
PubMed Link:
34801551
Variant Present in the following documents:
main.pdf
View BVdb publication page
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: L862G
PubMed Link:
30425124
Variant Present in the following documents:
JGP_201812129.pdf
View BVdb publication page