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AQP2 c.692C>A ;(p.S231*)
Variant ID: 12-50349267-C-A
NM_000486.5(
AQP2
):c.692C>A;(p.S231*)
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:
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.
Scientific Reports
Grant, Adam D AD; Vail, Paris P; Padi, Megha M; Witkiewicz, Agnieszka K AK; Knudsen, Erik S ES
Publication Date: 2019-09-04
Variant appearance in text: AQP2: S231*
PubMed Link:
31484939
Variant Present in the following documents:
41598_2019_48967_MOESM2_ESM.xls, sheet 1
View BVdb publication page