KCNQ1 c.745_747delinsTGT ;(p.R249C)

Variant ID: 11-2593304-AGG-TGT

NM_000218.2(KCNQ1):c.745_747delinsTGT;(p.R249C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.

The Journal Of Biological Chemistry
Eckey, Karina K; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Pott, Lutz L; Schmitt, Nicole N; Seebohm, Guiscard G
Publication Date: 2014-08-15

Variant appearance in text: KCNQ1: R249C
PubMed Link: 24947509
Variant Present in the following documents:
  • Main text
View BVdb publication page