KCNH2 c.1702_1703delinsGC ;(p.W568A)

Variant ID: 7-150648778-CA-GC

NM_000238.3(KCNH2):c.1702_1703delinsGC;(p.W568A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sequence and structural conservation reveal fingerprint residues in TRP channels.

Elife
Cabezas-Bratesco, Deny D; Mcgee, Francisco A FA; Colenso, Charlotte K CK; Zavala, Kattina K; Granata, Daniele D; Carnevale, Vincenzo V; Opazo, Juan C JC; Brauchi, Sebastian E SE
Publication Date: 2022-06-10

Variant appearance in text: Kv11.1: W568A
PubMed Link: 35686986
Variant Present in the following documents:
  • Main text
  • elife-73645.pdf
View BVdb publication page



PD-118057 contacts the pore helix of hERG1 channels to attenuate inactivation and enhance K+ conductance.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Matthew M; Sachse, Frank B FB; Abbruzzese, Jennifer J; Sanguinetti, Michael C MC
Publication Date: 2009-11-24

Variant appearance in text: KCNH2: W568A
PubMed Link: 19892732
Variant Present in the following documents:
  • Main text
View BVdb publication page