MSH6 c.593A>G ;(p.E198G)

Variant ID: 2-48023168-A-G

NM_000179.2(MSH6):c.593A>G;(p.E198G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

American Journal Of Human Genetics
Jia, Xiaoyan X; Burugula, Bala Bharathi BB; Chen, Victor V; Lemons, Rosemary M RM; Jayakody, Sajini S; Maksutova, Mariam M; Kitzman, Jacob O JO
Publication Date: 2021-01-07

Variant appearance in text: MSH6: 593A>G; Glu198Gly
PubMed Link: 33357406
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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: MSH6: 593A>G; E198G
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page