KCNH2 c.1792_1794delinsCAA ;(p.N598Q)

Variant ID: 7-150648687-GTT-TTG

NM_000238.3(KCNH2):c.1792_1794delinsCAA;(p.N598Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Importance of the Choice of a Recombinant System to Produce Large Amounts of Functional Membrane Protein hERG.

International Journal Of Molecular Sciences
Vasseur, Lucie L; Cens, Thierry T; Wagner, Renaud R; Saint, Nathalie N; Kugler, Valérie V; Chavanieu, Alain A; Ouvry, Christine C; Dupré, Clémence C; Ferry, Gilles G; Boutin, Jean A JA
Publication Date: 2019-06-28

Variant appearance in text: Kv11.1: N598Q
PubMed Link: 31261773
Variant Present in the following documents:
  • Main text
  • ijms-20-03181.pdf
View BVdb publication page



Trafficking-deficient hERG K⁺ channels linked to long QT syndrome are regulated by a microtubule-dependent quality control compartment in the ER.

American Journal Of Physiology. Cell Physiology
Smith, Jennifer L JL; McBride, Christie M CM; Nataraj, Parvathi S PS; Bartos, Daniel C DC; January, Craig T CT; Delisle, Brian P BP
Publication Date: 2011-07

Variant appearance in text: LQT2: N598Q
PubMed Link: 21490315
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

The Journal Of Biological Chemistry
Gong, Qiuming Q; Jones, Melanie A MA; Zhou, Zhengfeng Z
Publication Date: 2006-02-17

Variant appearance in text: LQT2: N598Q
PubMed Link: 16361248
Variant Present in the following documents:
  • Main text
View BVdb publication page