KCNQ1 c.1678_1679delinsGC ;(p.Q560A)

Variant ID: 11-2797277-CA-GC

NM_000218.2(KCNQ1):c.1678_1679delinsGC;(p.Q560A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Dynein regulates Kv7.4 channel trafficking from the cell membrane.

The Journal Of General Physiology
van der Horst, Jennifer J; Rognant, Salomé S; Abbott, Geoffrey W GW; Ozhathil, Lijo Cherian LC; Hägglund, Per P; Barrese, Vincenzo V; Chuang, Christine Y CY; Jespersen, Thomas T; Davies, Michael J MJ; Greenwood, Iain A IA; Gourdon, Pontus P; Aalkjær, Christian C; Jepps, Thomas A TA
Publication Date: 2021-03-01

Variant appearance in text: Kv7.1: Q560A
PubMed Link: 33533890
Variant Present in the following documents:
  • Main text
  • JGP_202012760.pdf
View BVdb publication page