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KCNQ1 c.769_770delinsTG ;(p.I257C)
Variant ID: 11-2593328-AT-TG
NM_000218.2(
KCNQ1
):c.769_770delinsTG;(p.I257C)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1.
The Journal Of General Physiology
Lvov, Anatoli A; Gage, Steven D SD; Berrios, Virla M VM; Kobertz, William R WR
Publication Date: 2010-06
Variant appearance in text: KCNQ1: I257C
PubMed Link:
20479109
Variant Present in the following documents:
Main text
JGP_200910386.pdf
View BVdb publication page