MUC16 c.18869C>T ;(p.T6290I)

Variant ID: 19-9068577-G-A

NM_024690.2(MUC16):c.18869C>T;(p.T6290I)

This variant was identified in 2 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: MUC16: 18869C>T; T6290I
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

European Journal Of Human Genetics : Ejhg
Onat, Onur Emre OE; Gulsuner, Suleyman S; Bilguvar, Kaya K; Nazli Basak, Ayse A; Topaloglu, Haluk H; Tan, Meliha M; Tan, Uner U; Gunel, Murat M; Ozcelik, Tayfun T
Publication Date: 2013-03

Variant appearance in text: MUC16: T6290I
PubMed Link: 22892528
Variant Present in the following documents:
  • Main text
View BVdb publication page