HAL c.1106G>T ;(p.R369L)

Variant ID: 12-96379884-C-A

NM_002108.3(HAL):c.1106G>T;(p.R369L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: HAL: 1106G>T; R369L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Thorax
Jackson, Victoria E VE; Ntalla, Ioanna I; Sayers, Ian I; Morris, Richard R; Whincup, Peter P; Casas, Juan-Pablo JP; Amuzu, Antoinette A; Choi, Minkyoung M; Dale, Caroline C; Kumari, Meena M; Engmann, Jorgen J; Kalsheker, Noor N; Chappell, Sally S; Guetta-Baranes, Tamar T; McKeever, Tricia M TM; Palmer, Colin N A CN; Tavendale, Roger R; Holloway, John W JW; Sayer, Avan A AA; Dennison, Elaine M EM; Cooper, Cyrus C; Bafadhel, Mona M; Barker, Bethan B; Brightling, Chris C; Bolton, Charlotte E CE; John, Michelle E ME; Parker, Stuart G SG; Moffat, Miriam F MF; Wardlaw, Andrew J AJ; Connolly, Martin J MJ; Porteous, David J DJ; Smith, Blair H BH; Padmanabhan, Sandosh S; Hocking, Lynne L; Stirrups, Kathleen E KE; Deloukas, Panos P; Strachan, David P DP; Hall, Ian P IP; Tobin, Martin D MD; Wain, Louise V LV
Publication Date: 2016-06

Variant appearance in text: rs117991621
PubMed Link: 26917578
Variant Present in the following documents:
  • thoraxjnl-2015-207876supp.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs117991621
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page