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SI c.259A>G ;(p.I87V)
Variant ID: 3-164786980-T-C
NM_001041.3(
SI
):c.259A>G;(p.I87V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
In vivo interactome profiling by enzyme-catalyzed proximity labeling.
Cell & Bioscience
Xu, Yangfan Y; Fan, Xianqun X; Hu, Yang Y
Publication Date: 2021-01-29
Variant appearance in text: SI: I87V
PubMed Link:
33514425
Variant Present in the following documents:
13578_2021_Article_542.pdf
View BVdb publication page
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Plos Genetics
Grampa, Valentina V; Delous, Marion M; Zaidan, Mohamad M; Odye, Gweltas G; Thomas, Sophie S; Elkhartoufi, Nadia N; Filhol, Emilie E; Niel, Olivier O; Silbermann, Flora F; Lebreton, Corinne C; Collardeau-Frachon, Sophie S; Rouvet, Isabelle I; Alessandri, Jean-Luc JL; Devisme, Louise L; Dieux-Coeslier, Anne A; Cordier, Marie-Pierre MP; Capri, Yline Y; Khung-Savatovsky, Suonavy S; Sigaudy, Sabine S; Salomon, Rémi R; Antignac, Corinne C; Gubler, Marie-Claire MC; Benmerah, Alexandre A; Terzi, Fabiola F; Attié-Bitach, Tania T; Jeanpierre, Cécile C; Saunier, Sophie S
Publication Date: 2016-03
Variant appearance in text: SI: 259A>G
PubMed Link:
26967905
Variant Present in the following documents:
Main text
pgen.1005894.pdf
View BVdb publication page