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KCNH2 c.2299G>T ;(p.D767Y)
Variant ID: 7-150647355-C-A
NM_000238.3(
KCNH2
):c.2299G>T;(p.D767Y)
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: D767Y
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
View BVdb publication page
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.
Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10
Variant appearance in text: KCNH2: 2299G>T
PubMed Link:
29127303
Variant Present in the following documents:
41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
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: Kv11.1: D767Y
PubMed Link:
25417810
Variant Present in the following documents:
Main text
nihms634670.pdf
View BVdb publication page