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KCNQ1 c.80_81delinsAG ;(p.S27K)
Variant ID: 11-2466408-GC-AG
NM_000218.2(
KCNQ1
):c.80_81delinsAG;(p.S27K)
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:
Regulatory actions of the A-kinase anchoring protein Yotiao on a heart potassium channel downstream of PKA phosphorylation.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Kurokawa, Junko J; Motoike, Howard K HK; Rao, Jenny J; Kass, Robert S RS
Publication Date: 2004-11-16
Variant appearance in text: KCNQ1: S27K
PubMed Link:
15528278
Variant Present in the following documents:
Main text
View BVdb publication page