KCNH2 c.343G>A ;(p.V115M)

Variant ID: 7-150656789-C-T

NM_000238.3(KCNH2):c.343G>A;(p.V115M)

This variant was identified in 7 publications

View GRCh38 version.




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: 343G>A; V115M; rs150988911
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: KCNH2: 343G>A; Val115Met
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: KCNH2: V115M
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



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: V115M
PubMed Link: 32475984
Variant Present in the following documents:
  • Main text
  • nihms-1603463.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KCNH2: 343G>A; Val115Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer.

Bmc Cancer
Kangaspeska, Sara S; Hultsch, Susanne S; Jaiswal, Alok A; Edgren, Henrik H; Mpindi, John-Patrick JP; Eldfors, Samuli S; Brück, Oscar O; Aittokallio, Tero T; Kallioniemi, Olli O
Publication Date: 2016-07-04

Variant appearance in text: KCNH2: V115M
PubMed Link: 27378269
Variant Present in the following documents:
  • 12885_2016_2452_MOESM9_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: V115M
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
View BVdb publication page