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KCNH2 c.169G>C ;(p.A57P)
Variant ID: 7-150671937-C-G
NM_000238.3(
KCNH2
):c.169G>C;(p.A57P)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ
Publication Date: 2020-10
Variant appearance in text: Kv11.1: A57P
PubMed Link:
32475984
Variant Present in the following documents:
View BVdb publication page
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: A57P
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.
Frontiers In Physiology
Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM
Publication Date: 2018
Variant appearance in text: LQT2: A57P
PubMed Link:
29725305
Variant Present in the following documents:
Main text
fphys-09-00397.pdf
View BVdb publication page
Exploiting ion channel structure to assess rare variant pathogenicity.
Heart Rhythm
Kroncke, Brett M BM; Yang, Tao T; Kannankeril, Prince P; Shoemaker, M Benjamin MB; Roden, Dan M DM
Publication Date: 2018-06
Variant appearance in text: KCNH2: Ala57Pro
PubMed Link:
29330128
Variant Present in the following documents:
Main text
View BVdb publication page
Concealed long QT syndrome and intractable partial epilepsy: a case report.
Mayo Clinic Proceedings
Anderson, Jason H JH; Bos, Johan Martijn JM; Meyer, Fredric B FB; Cascino, Gregory D GD; Ackerman, Michael J MJ
Publication Date: 2012-11
Variant appearance in text: LQT2: A57P
PubMed Link:
23058853
Variant Present in the following documents:
Main text
View BVdb publication page