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KCNH2 c.521C>T ;(p.T174M)
Variant ID: 7-150655542-G-A
NM_000238.3(
KCNH2
):c.521C>T;(p.T174M)
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:
Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.
Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21
Variant appearance in text: KCNH2: T174M
PubMed Link:
35449156
Variant Present in the following documents:
41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.
Arrhythmia & Electrophysiology Review
Mahida, Saagar S
Publication Date: 2014-08
Variant appearance in text: KCNH2: T174M
PubMed Link:
26835069
Variant Present in the following documents:
Main text
View BVdb publication page
Monogenic atrial fibrillation as pathophysiological paradigms.
Cardiovascular Research
Mahida, Saagar S; Lubitz, Steven A SA; Rienstra, Michiel M; Milan, David J DJ; Ellinor, Patrick T PT
Publication Date: 2011-03-01
Variant appearance in text: KCNH2: T174M
PubMed Link:
21123219
Variant Present in the following documents:
Main text
View BVdb publication page
Genetics of atrial fibrillation.
Heart Failure Clinics
Lubitz, Steven A SA; Yi, B Alexander BA; Ellinor, Patrick T PT
Publication Date: 2010-04
Variant appearance in text: KCNH2: T174M
PubMed Link:
20347792
Variant Present in the following documents:
Main text
View BVdb publication page
Genetics of atrial fibrillation.
Cardiology Clinics
Lubitz, Steven A SA; Yi, B Alexander BA; Ellinor, Patrick T PT
Publication Date: 2009-02
Variant appearance in text: KCNH2: T174M
PubMed Link:
19111761
Variant Present in the following documents:
Main text
View BVdb publication page