KCNH2 c.2219G>C ;(p.C740S)

Variant ID: 7-150647435-C-G

NM_000238.3(KCNH2):c.2219G>C;(p.C740S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: KCNH2: C740S
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Cysteine 723 in the C-linker segment confers oxidative inhibition of hERG1 potassium channels.

The Journal Of Physiology
Kolbe, Katrin K; Schönherr, Roland R; Gessner, Guido G; Sahoo, Nirakar N; Hoshi, Toshinori T; Heinemann, Stefan H SH
Publication Date: 2010-08-15

Variant appearance in text: KCNH2: C740S
PubMed Link: 20547678
Variant Present in the following documents:
  • Main text
View BVdb publication page