HR c.1022G>A ;(p.C341Y)

Variant ID: 8-21984933-C-T

NM_005144.4(HR):c.1022G>A;(p.C341Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Chromatin complex dependencies reveal targeting opportunities in leukemia.

Nature Communications
Najm, Fadi J FJ; DeWeirdt, Peter P; Moore, Molly M MM; Bevill, Samantha M SM; El Farran, Chadi A CA; Macias, Kevin A KA; Hegde, Mudra M; Waterbury, Amanda L AL; Liau, Brian B BB; van Galen, Peter P; Doench, John G JG; Bernstein, Bradley E BE
Publication Date: 2023-01-27

Variant appearance in text: HR: C341Y
PubMed Link: 36707513
Variant Present in the following documents:
  • 41467_2023_36150_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood
Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S
Publication Date: 2021-12-02

Variant appearance in text: HR: 1022G>A
PubMed Link: 34189567
Variant Present in the following documents:
  • Main text
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: HR: 1022G>A; C341Y
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page