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KCNQ1 c.559C>A ;(p.L187I)
Variant ID: 11-2591939-C-A
NM_000218.2(
KCNQ1
):c.559C>A;(p.L187I)
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:
ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.
The Journal Of General Physiology
Eldstrom, Jodene J; McAfee, Donald A DA; Dou, Ying Y; Wang, Yundi Y; Fedida, David D
Publication Date: 2021-12-06
Variant appearance in text: KCNQ1: L187I
PubMed Link:
34636894
Variant Present in the following documents:
Main text
JGP_202112969.pdf
View BVdb publication page