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KCNH2 c.2419_2420delinsAG ;(p.E807R)
Variant ID: 7-150646116-TC-CT
NM_000238.3(
KCNH2
):c.2419_2420delinsAG;(p.E807R)
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:
Structure of KCNH2 cyclic nucleotide-binding homology domain reveals a functionally vital salt-bridge.
The Journal Of General Physiology
Ben-Bassat, Ariel A; Giladi, Moshe M; Haitin, Yoni Y
Publication Date: 2020-04-06
Variant appearance in text: KCNH2: E807R
PubMed Link:
32191791
Variant Present in the following documents:
Main text
JGP_201912505.pdf
View BVdb publication page
Multiple interactions between cytoplasmic domains regulate slow deactivation of Kv11.1 channels.
The Journal Of Biological Chemistry
Ng, Chai Ann CA; Phan, Kevin K; Hill, Adam P AP; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2014-09-12
Variant appearance in text: Kv11.1: E807R
PubMed Link:
25074935
Variant Present in the following documents:
Main text
View BVdb publication page