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KCNH2 c.1703G>T ;(p.W568L)
Variant ID: 7-150648778-C-A
NM_000238.3(
KCNH2
):c.1703G>T;(p.W568L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular basis for functional connectivity between the voltage sensor and the selectivity filter gate in Shaker K+ channels.
Elife
Bassetto, Carlos Az CA; Carvalho-de-Souza, João Luis JL; Bezanilla, Francisco F
Publication Date: 2021-02-23
Variant appearance in text: HERG: W568L
PubMed Link:
33620313
Variant Present in the following documents:
Main text
elife-63077.pdf
View BVdb publication page
Molecular basis for functional connectivity between the voltage sensor and the selectivity filter gate in Shaker K+ channels.
Elife
Bassetto, Carlos Az CA; Carvalho-de-Souza, João Luis JL; Bezanilla, Francisco F
Publication Date: 2021-02-23
Variant appearance in text: HERG: W568L
PubMed Link:
33620313
Variant Present in the following documents:
Main text
elife-63077.pdf
View BVdb publication page
Cooperative subunit interactions mediate fast C-type inactivation of hERG1 K+ channels.
The Journal Of Physiology
Wu, Wei W; Gardner, Alison A; Sanguinetti, Michael C MC
Publication Date: 2014-10-15
Variant appearance in text: KCNH2: W568L
PubMed Link:
25063820
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.
The Journal Of Biological Chemistry
Ferrer, Tania T; Cordero-Morales, Julio F JF; Arias, Marcelo M; Ficker, Eckhard E; Medovoy, David D; Perozo, Eduardo E; Tristani-Firouzi, Martin M
Publication Date: 2011-11-11
Variant appearance in text: KCNH2: W568L
PubMed Link:
21908602
Variant Present in the following documents:
Main text
View BVdb publication page