KCNQ1 c.928G>C ;(p.V310L)

Variant ID: 11-2604671-G-C

NM_000218.2(KCNQ1):c.928G>C;(p.V310L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

The Journal Of Physiology
Seebohm, Guiscard G; Westenskow, Peter P; Lang, Florian F; Sanguinetti, Michael C MC
Publication Date: 2005-03-01

Variant appearance in text: KCNQ1: V310L
PubMed Link: 15649981
Variant Present in the following documents:
  • Main text
View BVdb publication page