TYR c.950A>G ;(p.D317G)

Variant ID: 11-88924500-A-G

NM_000372.4(TYR):c.950A>G;(p.D317G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.

Epigenetics & Chromatin
Dreijerink, Koen M A KMA; Ozyerli-Goknar, Ezgi E; Koidl, Stefanie S; van der Lelij, Ewoud J EJ; van den Heuvel, Priscilla P; Kooijman, Jeffrey J JJ; Biniossek, Martin L ML; Rodenburg, Kees W KW; Nizamuddin, Sheikh S; Timmers, H T Marc HTM
Publication Date: 2022-08-09

Variant appearance in text: TYR: 950A>G
PubMed Link: 35941657
Variant Present in the following documents:
  • 13072_2022_461_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TYR: 950A>G; D317G
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page