SI c.591C>A ;(p.N197K)

Variant ID: 3-164785172-G-T

NM_001041.3(SI):c.591C>A;(p.N197K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: SI: 591C>A
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Jama Neurology
Zukosky, Kristen K; Meilleur, Katherine K; Traynor, Bryan J BJ; Dastgir, Jahannaz J; Medne, Livija L; Devoto, Marcella M; Collins, James J; Rooney, Jachinta J; Zou, Yaqun Y; Yang, Michele L ML; Gibbs, J Raphael JR; Meier, Markus M; Stetefeld, Joerg J; Finkel, Richard S RS; Schessl, Joachim J; Elman, Lauren L; Felice, Kevin K; Ferguson, Toby A TA; Ceyhan-Birsoy, Ozge O; Beggs, Alan H AH; Tennekoon, Gihan G; Johnson, Janel O JO; Bönnemann, Carsten G CG
Publication Date: 2015-06

Variant appearance in text: SI: 591C>A
PubMed Link: 25938801
Variant Present in the following documents:
  • Main text
View BVdb publication page