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KCNQ1 c.1078_1079delinsCA ;(p.R360Q)
Variant ID: 11-2606487-AG-CA
NM_000218.2(
KCNQ1
):c.1078_1079delinsCA;(p.R360Q)
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:
Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06
Variant appearance in text: Kv7.1: R360Q
PubMed Link:
23861489
Variant Present in the following documents:
Main text
View BVdb publication page