KCNQ1 c.691_692delinsTA ;(p.R231Y)

Variant ID: 11-2593250-CG-TA

NM_000218.2(KCNQ1):c.691_692delinsTA;(p.R231Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry
Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR
Publication Date: 2021

Variant appearance in text: KCNQ1: R231Y
PubMed Link: 33600800
Variant Present in the following documents:
  • main.pdf
View BVdb publication page