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KCNH2 c.2271G>C ;(p.K757N)
Variant ID: 7-150647383-C-G
NM_000238.3(
KCNH2
):c.2271G>C;(p.K757N)
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:
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: LQT2: K757N
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page