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KCNQ1 c.1420_1422delinsTGT ;(p.V474C)
Variant ID: 11-2683217-GTG-TGT
NM_000218.2(
KCNQ1
):c.1420_1422delinsTGT;(p.V474C)
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 activation gate controls steady-state inactivation and recovery from inactivation in Shaker.
The Journal Of General Physiology
Szanto, Tibor G TG; Zakany, Florina F; Papp, Ferenc F; Varga, Zoltan Z; Deutsch, Carol J CJ; Panyi, Gyorgy G
Publication Date: 2020-08-03
Variant appearance in text: KCNQ1: V474C
PubMed Link:
32442242
Variant Present in the following documents:
JGP_202012591.pdf
View BVdb publication page
Being flexible: the voltage-controllable activation gate of kv channels.
Frontiers In Pharmacology
Labro, Alain J AJ; Snyders, Dirk J DJ
Publication Date: 2012
Variant appearance in text: Kv7.1: V474C
PubMed Link:
22993508
Variant Present in the following documents:
Main text
fphar-03-00168.pdf
View BVdb publication page