PLEKHO2 c.868C>G ;(p.P290A)

Variant ID: 15-65157482-C-G

NM_025201.4(PLEKHO2):c.868C>G;(p.P290A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2010875
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



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: rs2010875
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2010875
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.

American Journal Of Human Genetics
Eicher, John D JD; Chami, Nathalie N; Kacprowski, Tim T; Nomura, Akihiro A; Chen, Ming-Huei MH; Yanek, Lisa R LR; Tajuddin, Salman M SM; Schick, Ursula M UM; Slater, Andrew J AJ; Pankratz, Nathan N; Polfus, Linda L; Schurmann, Claudia C; Giri, Ayush A; Brody, Jennifer A JA; Lange, Leslie A LA; Manichaikul, Ani A; Hill, W David WD; Pazoki, Raha R; Elliot, Paul P; Evangelou, Evangelos E; Tzoulaki, Ioanna I; Gao, He H; Vergnaud, Anne-Claire AC; Mathias, Rasika A RA; Becker, Diane M DM; Becker, Lewis C LC; Burt, Amber A; Crosslin, David R DR; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Hernesniemi, Jussi J; Kähönen, Mika M; Raitoharju, Emma E; Mononen, Nina N; Raitakari, Olli T OT; Lehtimäki, Terho T; Cushman, Mary M; Zakai, Neil A NA; Nickerson, Deborah A DA; Raffield, Laura M LM; Quarells, Rakale R; Willer, Cristen J CJ; Peloso, Gina M GM; Abecasis, Goncalo R GR; Liu, Dajiang J DJ; , ; Deloukas, Panos P; Samani, Nilesh J NJ; Schunkert, Heribert H; Erdmann, Jeanette J; , ; , ; Fornage, Myriam M; Richard, Melissa M; Tardif, Jean-Claude JC; Rioux, John D JD; Dube, Marie-Pierre MP; de Denus, Simon S; Lu, Yingchang Y; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Smith, Albert Vernon AV; Harris, Tamara B TB; Launer, Lenore J LJ; Gudnason, Vilmundur V; Velez Edwards, Digna R DR; Torstenson, Eric S ES; Liu, Yongmei Y; Tracy, Russell P RP; Rotter, Jerome I JI; Rich, Stephen S SS; Highland, Heather M HM; Boerwinkle, Eric E; Li, Jin J; Lange, Ethan E; Wilson, James G JG; Mihailov, Evelin E; Mägi, Reedik R; Hirschhorn, Joel J; Metspalu, Andres A; Esko, Tõnu T; Vacchi-Suzzi, Caterina C; Nalls, Mike A MA; Zonderman, Alan B AB; Evans, Michele K MK; Engström, Gunnar G; Orho-Melander, Marju M; Melander, Olle O; O'Donoghue, Michelle L ML; Waterworth, Dawn M DM; Wallentin, Lars L; White, Harvey D HD; Floyd, James S JS; Bartz, Traci M TM; Rice, Kenneth M KM; Psaty, Bruce M BM; Starr, J M JM; Liewald, David C M DC; Hayward, Caroline C; Deary, Ian J IJ; Greinacher, Andreas A; Völker, Uwe U; Thiele, Thomas T; Völzke, Henry H; van Rooij, Frank J A FJ; Uitterlinden, André G AG; Franco, Oscar H OH; Dehghan, Abbas A; Edwards, Todd L TL; Ganesh, Santhi K SK; Kathiresan, Sekar S; Faraday, Nauder N; Auer, Paul L PL; Reiner, Alex P AP; Lettre, Guillaume G; Johnson, Andrew D AD
Publication Date: 2016-07-07

Variant appearance in text: rs2010875
PubMed Link: 27346686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: rs2010875
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2010875
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs2010875
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2010875
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page