Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNH2 c.2578_2579delinsCG ;(p.F860R)
Variant ID: 7-150645957-AA-CG
NM_000238.3(
KCNH2
):c.2578_2579delinsCG;(p.F860R)
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: F860R
PubMed Link:
34801551
Variant Present in the following documents:
Main text
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: F860R
PubMed Link:
34801551
Variant Present in the following documents:
Main text
main.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: F860R
PubMed Link:
24204727
Variant Present in the following documents:
Main text
pone.0077032.pdf
View BVdb publication page