Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNH2 c.1259A>G ;(p.Y420C)
Variant ID: 7-150649811-T-C
NM_000238.3(
KCNH2
):c.1259A>G;(p.Y420C)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06
Variant appearance in text: KCNH2: 1259A>G; rs199473507
PubMed Link:
37324772
Variant Present in the following documents:
Main text
JOA3-39-430.pdf
View BVdb publication page
Molecular dynamics simulations suggest possible activation and deactivation pathways in the hERG channel.
Communications Biology
Costa, Flavio F; Guardiani, Carlo C; Giacomello, Alberto A
Publication Date: 2022-02-24
Variant appearance in text: HERG: Y420C
PubMed Link:
35210539
Variant Present in the following documents:
42003_2022_3074_MOESM1_ESM.pdf
42003_2022_Article_3074.pdf
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: Y420C
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
A helical segment makes potassium channels go-go.
The Journal Of Biological Chemistry
Parent, Lucie L
Publication Date: 2017-05-05
Variant appearance in text: Kv11.1: Y420C
PubMed Link:
28476926
Variant Present in the following documents:
Main text
View BVdb publication page
The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.
The Journal Of Biological Chemistry
Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2017-05-05
Variant appearance in text: Kv11.1: Y420C
PubMed Link:
28280240
Variant Present in the following documents:
Main text
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: LQT2: Y420C
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: KCNH2: Y420C
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page