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KCNH2 c.1756_1757delinsTG ;(p.L586W)
Variant ID: 7-150648724-AG-CA
NM_000238.3(
KCNH2
):c.1756_1757delinsTG;(p.L586W)
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:
Absence of direct cyclic nucleotide modulation of mEAG1 and hERG1 channels revealed with fluorescence and electrophysiological methods.
The Journal Of Biological Chemistry
Brelidze, Tinatin I TI; Carlson, Anne E AE; Zagotta, William N WN
Publication Date: 2009-10-09
Variant appearance in text: KCNH2: L586W
PubMed Link:
19671703
Variant Present in the following documents:
Main text
View BVdb publication page