AQP7 c.700C>T ;(p.R234C)

Variant ID: 9-33385690-G-A

NM_001170.1(AQP7):c.700C>T;(p.R234C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs139024279
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: rs139024279
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Scientific Reports
Rinner, Beate B; Gandolfi, Greta G; Meditz, Katharina K; Frisch, Marie-Therese MT; Wagner, Karin K; Ciarrocchi, Alessia A; Torricelli, Federica F; Koivuniemi, Raili R; Niklander, Johanna J; Liegl-Atzwanger, Bernadette B; Lohberger, Birgit B; Heitzer, Ellen E; Ghaffari-Tabrizi-Wizsy, Nassim N; Zweytick, Dagmar D; Zalaudek, Iris I
Publication Date: 2017-05-18

Variant appearance in text: AQP7: 700C>T; Arg234Cys
PubMed Link: 28522871
Variant Present in the following documents:
  • 41598_2017_2197_MOESM1_ESM.pdf
View BVdb publication page