KCNH2 c.1849T>G ;(p.F617V)

Variant ID: 7-150648632-A-C

NM_000238.3(KCNH2):c.1849T>G;(p.F617V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: F617V
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: KCNH2: F617V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page