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KCNH2 c.3146T>C ;(p.L1049P)
Variant ID: 7-150644422-A-G
NM_000238.3(
KCNH2
):c.3146T>C;(p.L1049P)
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:
H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.
International Journal Of Molecular Sciences
Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG
Publication Date: 2021-08-26
Variant appearance in text: Kv11.1: L1049P
PubMed Link:
34502138
Variant Present in the following documents:
Main text
ijms-22-09235.pdf
View BVdb publication page
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24
Variant appearance in text: LQT2: L1049P
PubMed Link:
25417810
Variant Present in the following documents:
Main text
nihms634670.pdf
View BVdb publication page