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KCNH2 c.1849T>G ;(p.F617V)
Variant ID: 7-150648632-A-C
NM_000238.3(
KCNH2
):c.1849T>G;(p.F617V)
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:
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: F617V
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: KCNH2: F617V
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page