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KCNQ1 c.547_549delinsTGT ;(p.K183C)
Variant ID: 11-2591927-AAG-TGT
NM_000218.2(
KCNQ1
):c.547_549delinsTGT;(p.K183C)
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:
Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.
The Journal Of Biological Chemistry
Eckey, Karina K; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Pott, Lutz L; Schmitt, Nicole N; Seebohm, Guiscard G
Publication Date: 2014-08-15
Variant appearance in text: KCNQ1: K183C
PubMed Link:
24947509
Variant Present in the following documents:
Main text
View BVdb publication page