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KCNH2 c.1858A>G ;(p.S620G)
Variant ID: 7-150648623-T-C
NM_000238.3(
KCNH2
):c.1858A>G;(p.S620G)
This variant was identified in 3 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: S620G
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
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: S620G
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.
Scientific Reports
Steffensen, Annette Buur AB; Refaat, Marwan M MM; David, Jens-Peter JP; Mujezinovic, Amer A; Calloe, Kirstine K; Wojciak, Julianne J; Nussbaum, Robert L RL; Scheinman, Melvin M MM; Schmitt, Nicole N
Publication Date: 2015-06-12
Variant appearance in text: LQT2: 1858A>G
PubMed Link:
26066609
Variant Present in the following documents:
Main text
srep10009.pdf
View BVdb publication page