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KCNH2 c.1232A>C ;(p.D411A)
Variant ID: 7-150649838-T-G
NM_000238.3(
KCNH2
):c.1232A>C;(p.D411A)
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 S1 helix critically regulates the finely tuned gating of Kv11.1 channels.
The Journal Of Biological Chemistry
Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2017-05-05
Variant appearance in text: Kv11.1: D411A
PubMed Link:
28280240
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular mapping of a site for Cd2+-induced modification of human ether-à-go-go-related gene (hERG) channel activation.
The Journal Of Physiology
Fernandez, David D; Ghanta, Azad A; Kinard, Krista I KI; Sanguinetti, Michael C MC
Publication Date: 2005-09-15
Variant appearance in text: HERG: D411A
PubMed Link:
15975984
Variant Present in the following documents:
Main text
View BVdb publication page