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KCNQ1 c.478_480delinsTGT ;(p.E160C)
Variant ID: 11-2591858-GAG-TGT
NM_000218.2(
KCNQ1
):c.478_480delinsTGT;(p.E160C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05
Variant appearance in text: KCNQ1: E160C
PubMed Link:
26745405
Variant Present in the following documents:
Main text
View BVdb publication page
Regulation of Voltage-Activated K(+) Channel Gating by Transmembrane β Subunits.
Frontiers In Pharmacology
Sun, Xiaohui X; Zaydman, Mark A MA; Cui, Jianmin J
Publication Date: 2012
Variant appearance in text: KCNQ1: E160C
PubMed Link:
22529812
Variant Present in the following documents:
Main text
fphar-03-00063.pdf
View BVdb publication page