KCNQ1 c.730_732delinsTGT ;(p.Q244C)

Variant ID: 11-2593289-CAG-TGT

NM_000218.2(KCNQ1):c.730_732delinsTGT;(p.Q244C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structural basis for KCNE3 modulation of potassium recycling in epithelia.

Science Advances
Kroncke, Brett M BM; Van Horn, Wade D WD; Smith, Jarrod J; Kang, CongBao C; Welch, Richard C RC; Song, Yuanli Y; Nannemann, David P DP; Taylor, Keenan C KC; Sisco, Nicholas J NJ; George, Alfred L AL; Meiler, Jens J; Vanoye, Carlos G CG; Sanders, Charles R CR
Publication Date: 2016-09

Variant appearance in text: KCNQ1: Gln244Cys
PubMed Link: 27626070
Variant Present in the following documents:
  • Main text
  • 1501228.pdf
View BVdb publication page