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KCNQ1 c.568_569delinsGC ;(p.R190A)
Variant ID: 11-2591948-CG-GC
NM_000218.2(
KCNQ1
):c.568_569delinsGC;(p.R190A)
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:
PIP2 mediates functional coupling and pharmacology of neuronal KCNQ channels.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Kim, Robin Y RY; Pless, Stephan A SA; Kurata, Harley T HT
Publication Date: 2017-11-07
Variant appearance in text: KCNQ1: R190A
PubMed Link:
29078287
Variant Present in the following documents:
Main text
pnas.201705802.pdf
View BVdb publication page