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KCNQ1 c.178G>C ;(p.G60R)
Variant ID: 11-2466506-G-C
NM_000218.2(
KCNQ1
):c.178G>C;(p.G60R)
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:
Serial perturbation of MinK in IKs implies an alpha-helical transmembrane span traversing the channel corpus.
Biophysical Journal
Chen, Haijun H; Goldstein, Steve A N SA
Publication Date: 2007-10-01
Variant appearance in text: KCNQ1: G60R
PubMed Link:
17545244
Variant Present in the following documents:
Main text
View BVdb publication page