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KCNQ1 c.1813_1814delinsGA ;(p.R605E)
Variant ID: 11-2869015-AG-GA
NM_000218.2(
KCNQ1
):c.1813_1814delinsGA;(p.R605E)
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:
Second coiled-coil domain of KCNQ channel controls current expression and subfamily specific heteromultimerization by salt bridge networks.
The Journal Of Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2008-06-15
Variant appearance in text: KCNQ1: R605E
PubMed Link:
18440995
Variant Present in the following documents:
Main text
View BVdb publication page