KCNH2 c.1522_1524del ;(p.F508del)

Variant ID: 7-150649545-CGAA-C

NM_000238.3(KCNH2):c.1522_1524del;(p.F508del)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Carbamazepine promotes surface expression of mutant Kir6.2-A28V ATP-sensitive potassium channels by modulating Golgi retention and autophagy.

The Journal Of Biological Chemistry
Lin, Ching-Han CH; Lin, Yu-Chi YC; Yang, Shi-Bing SB; Chen, Pei-Chun PC
Publication Date: 2022-05

Variant appearance in text: HERG: F508del
PubMed Link: 35398096
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



What Is the Potential for Lumacaftor as a Chemical Chaperone in Promoting hERG Trafficking?

Frontiers In Cardiovascular Medicine
Zheng, Zequn Z; Song, Yongfei Y; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: KCNH2: F508del
PubMed Link: 35282377
Variant Present in the following documents:
  • fcvm-09-801927.pdf
View BVdb publication page



Identification of Novel Protein Kinase Receptor Type 2 Inhibitors Using Pharmacophore and Structure-Based Virtual Screening.

Molecules (Basel, Switzerland)
Cruz, Josiane V JV; Neto, Moysés F A MFA; Silva, Luciane B LB; da S Ramos, Ryan R; da S Costa, Josivan J; Brasil, Davi S B DSB; Lobato, Cleison C CC; da Costa, Glauber V GV; Bittencourt, José Adolfo H M JAHM; da Silva, Carlos H T P CHTP; Leite, Franco H A FHA; Santos, Cleydson B R CBR
Publication Date: 2018-02-18

Variant appearance in text: HERG: F508del
PubMed Link: 29463017
Variant Present in the following documents:
  • molecules-23-00453.pdf
View BVdb publication page



New Trends in Cancer Therapy: Targeting Ion Channels and Transporters.

Pharmaceuticals (Basel, Switzerland)
Arcangeli, Annarosa A; Becchetti, Andrea A
Publication Date: 2010-04-20

Variant appearance in text: HERG: F508del
PubMed Link: 27713296
Variant Present in the following documents:
  • pharmaceuticals-03-01202.pdf
View BVdb publication page



A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

The Journal Of General Physiology
Thiffault, Isabelle I; Speca, David J DJ; Austin, Daniel C DC; Cobb, Melanie M MM; Eum, Kenneth S KS; Safina, Nicole P NP; Grote, Lauren L; Farrow, Emily G EG; Miller, Neil N; Soden, Sarah S; Kingsmore, Stephen F SF; Trimmer, James S JS; Saunders, Carol J CJ; Sack, Jon T JT
Publication Date: 2015-11

Variant appearance in text: KCNH2: F508del
PubMed Link: 26503721
Variant Present in the following documents:
  • JGP_201511444.pdf
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: F508del
PubMed Link: 25417810
Variant Present in the following documents:
  • nihms634670.pdf
View BVdb publication page



Modelling human disease with pluripotent stem cells.

Current Gene Therapy
Siller, Richard R; Greenhough, Sebastian S; Park, In-Hyun IH; Sullivan, Gareth J GJ
Publication Date: 2013-04

Variant appearance in text: KCNH2: F508del
PubMed Link: 23444871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.

Plos One
Lee, Ting-Ting TT; Zhang, Xiao-Dong XD; Chuang, Chao-Chin CC; Chen, Jing-Jer JJ; Chen, Yi-An YA; Chen, Shu-Ching SC; Chen, Tsung-Yu TY; Tang, Chih-Yung CY
Publication Date: 2013

Variant appearance in text: Kv11.1: F508del
PubMed Link: 23424641
Variant Present in the following documents:
  • pone.0055930.pdf
View BVdb publication page