KCNH2 c.593T>A ;(p.V198E)

Variant ID: 7-150655470-A-T

NM_000238.3(KCNH2):c.593T>A;(p.V198E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel.

The Journal Of Biological Chemistry
Bertalovitz, Alexander C AC; Badhey, Marika L Osterbur MLO; McDonald, Thomas V TV
Publication Date: 2018-08-03

Variant appearance in text: KCNH2: V198E
PubMed Link: 29907571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Express with caution: Epitope tags and cDNA variants effects on hERG channel trafficking, half-life and function.

Journal Of Cardiovascular Electrophysiology
Osterbur Badhey, Marika L ML; Bertalovitz, Alexander C AC; McDonald, Thomas V TV
Publication Date: 2017-09

Variant appearance in text: KCNH2: V198E
PubMed Link: 28544109
Variant Present in the following documents:
  • Main text
View BVdb publication page