KCNH2 c.1879T>C ;(p.F627L)

Variant ID: 7-150648602-A-G

NM_000238.3(KCNH2):c.1879T>C;(p.F627L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022

Variant appearance in text: KCNH2: F627L
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.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: F627L
PubMed Link: 35210539
Variant Present in the following documents:
  • 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: F627L
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI
Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: F627L
PubMed Link: 26958806
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: F627L
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: F627L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Cardiovascular Journal Of Africa
Hedley, Paula L PL; Durrheim, Glenda A GA; Hendricks, Firzana F; Goosen, Althea A; Jespersgaard, Cathrine C; Støvring, Birgitte B; Pham, Tam T TT; Christiansen, Michael M; Brink, Paul A PA; Corfield, Valerie A VA
Publication Date: 2013-07

Variant appearance in text: KCNH2: F627L
PubMed Link: 24217263
Variant Present in the following documents:
  • Main text
  • cvja-24-231.pdf
View BVdb publication page