Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNQ1 c.158C>G ;(p.P53R)
Variant ID: 11-2466486-C-G
NM_000218.2(
KCNQ1
):c.158C>G;(p.P53R)
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:
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
The Journal Of Membrane Biology
Schlebach, Jonathan P JP; Sanders, Charles R CR
Publication Date: 2015-06
Variant appearance in text: KCNQ1: P53R
PubMed Link:
25192979
Variant Present in the following documents:
Main text
View BVdb publication page