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KCNQ1 c.1270A>C ;(p.K424Q)
Variant ID: 11-2609961-A-C
NM_000218.2(
KCNQ1
):c.1270A>C;(p.K424Q)
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:
SUMOylation determines the voltage required to activate cardiac I channels.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Xiong, Dazhi D; Li, Tian T; Dai, Hui H; Arena, Anthony F AF; Plant, Leigh D LD; Goldstein, Steve A N SAN
Publication Date: 2017-08-08
Variant appearance in text: KCNQ1: Lys424Gln
PubMed Link:
28743749
Variant Present in the following documents:
Main text
View BVdb publication page