KCNQ1 c.688A>C ;(p.I230L)

Variant ID: 11-2593247-A-C

NM_000218.2(KCNQ1):c.688A>C;(p.I230L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeting the voltage sensor of Kv7.2 voltage-gated K+ channels with a new gating-modifier.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Peretz, Asher A; Pell, Liat L; Gofman, Yana Y; Haitin, Yoni Y; Shamgar, Liora L; Patrich, Eti E; Kornilov, Polina P; Gourgy-Hacohen, Orit O; Ben-Tal, Nir N; Attali, Bernard B
Publication Date: 2010-08-31

Variant appearance in text: Kv7.1: I230L
PubMed Link: 20713704
Variant Present in the following documents:
  • Main text
View BVdb publication page