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KCNH2 c.1991A>C ;(p.Q664P)
Variant ID: 7-150648163-T-G
NM_000238.3(
KCNH2
):c.1991A>C;(p.Q664P)
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 EAG Voltage-Dependent K+ Channel Subfamily: Similarities and Differences in Structural Organization and Gating.
Frontiers In Pharmacology
Barros, Francisco F; de la Peña, Pilar P; Domínguez, Pedro P; Sierra, Luisa Maria LM; Pardo, Luis A LA
Publication Date: 2020
Variant appearance in text: erg1: Q664P
PubMed Link:
32351384
Variant Present in the following documents:
Main text
fphar-11-00411.pdf
View BVdb publication page
Proline scan of the HERG channel S6 helix reveals the location of the intracellular pore gate.
Biophysical Journal
Thouta, Samrat S; Sokolov, Stanislav S; Abe, Yuki Y; Clark, Sheldon J SJ; Cheng, Yen M YM; Claydon, Tom W TW
Publication Date: 2014-03-04
Variant appearance in text: HERG: Q664P
PubMed Link:
24606930
Variant Present in the following documents:
Main text
View BVdb publication page