PLG c.1414G>A ;(p.D472N)

Variant ID: 6-161152240-G-A

NM_000301.3(PLG):c.1414G>A;(p.D472N)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: PLG: D472N
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: PLG: D472N
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc3.xlsx, sheet 32
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs4252125
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: PLG: D472N
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: PLG: 1414G>A; D472N; rs4252125
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: PLG: 1414G>A; D472N; rs4252125
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: PLG: D472N
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Multi-omic studies on missense PLG variants in families with otitis media.

Scientific Reports
Bootpetch, Tori C TC; Hafrén, Lena L; Elling, Christina L CL; Baschal, Erin E EE; Manichaikul, Ani W AW; Pine, Harold S HS; Szeremeta, Wasyl W; Scholes, Melissa A MA; Cass, Stephen P SP; Larson, Eric D ED; Chan, Kenny H KH; Ishaq, Rafaqat R; Prager, Jeremy D JD; Shaikh, Rehan S RS; Gubbels, Samuel P SP; Yousaf, Ayesha A; , ; Wine, Todd M TM; Bamshad, Michael J MJ; Yoon, Patricia J PJ; Jenkins, Herman A HA; Nickerson, Deborah A DA; Streubel, Sven-Olrik SO; Friedman, Norman R NR; Frank, Daniel N DN; Einarsdottir, Elisabet E; Kere, Juha J; Riazuddin, Saima S; Daly, Kathleen A KA; Leal, Suzanne M SM; Ryan, Allen F AF; Mattila, Petri S PS; Ahmed, Zubair M ZM; Sale, Michele M MM; Chonmaitree, Tasnee T; Santos-Cortez, Regie Lyn P RLP
Publication Date: 2020-09-14

Variant appearance in text: PLG: Asp472Asn; rs4252125
PubMed Link: 32929111
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_70498.pdf
  • 41598_2020_70498_MOESM1_ESM.pdf
View BVdb publication page



Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Klaassen, Kristel K; Stankovic, Biljana B; Zukic, Branka B; Kotur, Nikola N; Gasic, Vladimir V; Pavlovic, Sonja S; Stojiljkovic, Maja M
Publication Date: 2020-10

Variant appearance in text: PLG: Asp472Asn; rs4252125
PubMed Link: 32771700
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs4252125
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: PLG: D472N
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: PLG: D472N
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



IL-4 polymorphism influences susceptibility to Pneumocystis jirovecii pneumonia in HIV-positive patients.

Aids (London, England)
Wójtowicz, Agnieszka A; Bibert, Stéphanie S; Taffé, Patrick P; Bernasconi, Enos E; Furrer, Hansjakob H; Günthard, Huldrych F HF; Hoffmann, Matthias M; Osthoff, Michael M; Cavassini, Matthias M; Bochud, Pierre-Yves PY; ,
Publication Date: 2019-09-01

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 31225812
Variant Present in the following documents:
  • Main text
  • aids-33-1719.pdf
View BVdb publication page



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: PLG: D472N; rs4252125
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
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: rs4252125
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
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 29567674
Variant Present in the following documents:
  • supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Larsen, Christopher P CP; Wilson, Jon D JD; Best-Rocha, Alejandro A; Beggs, Marjorie L ML; Hennigar, Randolph A RA
Publication Date: 2018-03

Variant appearance in text: PLG: 1414G>A
PubMed Link: 29148534
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.

Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
Publication Date: 2017-09

Variant appearance in text: PLG: Asp472Asn; rs4252125
PubMed Link: 28512139
Variant Present in the following documents:
  • Main text
  • 10.1194_M076232_jlr.M076232-1.pdf
  • jlrM076232.pdf
View BVdb publication page



A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.

Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
Publication Date: 2017-09

Variant appearance in text: PLG: Asp472Asn; rs4252125
PubMed Link: 28512139
Variant Present in the following documents:
  • Main text
  • 10.1194_M076232_jlr.M076232-1.pdf
  • jlrM076232.pdf
View BVdb publication page



Validation of single nucleotide polymorphisms in invasive aspergillosis following hematopoietic cell transplantation.

Blood
Fisher, Cynthia E CE; Hohl, Tobias M TM; Fan, Wenhong W; Storer, Barry E BE; Levine, David M DM; Zhao, Lu Ping LP; Martin, Paul J PJ; Warren, Edus H EH; Boeckh, Michael M; Hansen, John A JA
Publication Date: 2017-05-11

Variant appearance in text: rs4252125
PubMed Link: 28270451
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.

American Journal Of Human Genetics
Carmona, F David FD; Vaglio, Augusto A; Mackie, Sarah L SL; Hernández-Rodríguez, José J; Monach, Paul A PA; Castañeda, Santos S; Solans, Roser R; Morado, Inmaculada C IC; Narváez, Javier J; Ramentol-Sintas, Marc M; Pease, Colin T CT; Dasgupta, Bhaskar B; Watts, Richard R; Khalidi, Nader N; Langford, Carol A CA; Ytterberg, Steven S; Boiardi, Luigi L; Beretta, Lorenzo L; Govoni, Marcello M; Emmi, Giacomo G; Bonatti, Francesco F; Cimmino, Marco A MA; Witte, Torsten T; Neumann, Thomas T; Holle, Julia J; Schönau, Verena V; Sailler, Laurent L; Papo, Thomas T; Haroche, Julien J; Mahr, Alfred A; Mouthon, Luc L; Molberg, Øyvind Ø; Diamantopoulos, Andreas P AP; Voskuyl, Alexandre A; Brouwer, Elisabeth E; Daikeler, Thomas T; Berger, Christoph T CT; Molloy, Eamonn S ES; O'Neill, Lorraine L; Blockmans, Daniel D; Lie, Benedicte A BA; Mclaren, Paul P; Vyse, Timothy J TJ; Wijmenga, Cisca C; Allanore, Yannick Y; Koeleman, Bobby P C BPC; , ; , ; , ; Barrett, Jennifer H JH; Cid, María C MC; Salvarani, Carlo C; Merkel, Peter A PA; Morgan, Ann W AW; González-Gay, Miguel A MA; Martín, Javier J
Publication Date: 2017-01-05

Variant appearance in text: rs4252125
PubMed Link: 28041642
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.

Nature Communications
Miller, Clint L CL; Pjanic, Milos M; Wang, Ting T; Nguyen, Trieu T; Cohain, Ariella A; Lee, Jonathan D JD; Perisic, Ljubica L; Hedin, Ulf U; Kundu, Ramendra K RK; Majmudar, Deshna D; Kim, Juyong B JB; Wang, Oliver O; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Assimes, Themistocles L TL; Montgomery, Stephen B SB; Schadt, Eric E EE; Björkegren, Johan L M JLM; Quertermous, Thomas T
Publication Date: 2016-07-08

Variant appearance in text: rs4252125
PubMed Link: 27386823
Variant Present in the following documents:
  • ncomms12092-s6.xlsx, sheet 1
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: rs4252125
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

G3 (Bethesda, Md.)
Sadovnick, A Dessa AD; Traboulsee, Anthony L AL; Bernales, Cecily Q CQ; Ross, Jay P JP; Forwell, Amanda L AL; Yee, Irene M IM; Guillot-Noel, Lena L; Fontaine, Bertrand B; Cournu-Rebeix, Isabelle I; Alcina, Antonio A; Fedetz, Maria M; Izquierdo, Guillermo G; Matesanz, Fuencisla F; Hilven, Kelly K; Dubois, Bénédicte B; Goris, An A; Astobiza, Ianire I; Alloza, Iraide I; Antigüedad, Alfredo A; Vandenbroeck, Koen K; Akkad, Denis A DA; Aktas, Orhan O; Blaschke, Paul P; Buttmann, Mathias M; Chan, Andrew A; Epplen, Joerg T JT; Gerdes, Lisa-Ann LA; Kroner, Antje A; Kubisch, Christian C; Kümpfel, Tania T; Lohse, Peter P; Rieckmann, Peter P; Zettl, Uwe K UK; Zipp, Frauke F; Bertram, Lars L; Lill, Christina M CM; Fernandez, Oscar O; Urbaneja, Patricia P; Leyva, Laura L; Alvarez-Cermeño, Jose Carlos JC; Arroyo, Rafael R; Garagorri, Aroa M AM; García-Martínez, Angel A; Villar, Luisa M LM; Urcelay, Elena E; Malhotra, Sunny S; Montalban, Xavier X; Comabella, Manuel M; Berger, Thomas T; Fazekas, Franz F; Reindl, Markus M; Schmied, Mascha C MC; Zimprich, Alexander A; Vilariño-Güell, Carles C
Publication Date: 2016-07-07

Variant appearance in text: rs4252125
PubMed Link: 27194806
Variant Present in the following documents:
  • supp_g3.116.030841_TableS5.pdf
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: rs4252125
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PLG: D472N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: PLG: D472N
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Human genetic susceptibility to invasive aspergillosis.

Plos Pathogens
Cunha, Cristina C; Aversa, Franco F; Romani, Luigina L; Carvalho, Agostinho A
Publication Date: 2013

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 23950708
Variant Present in the following documents:
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  • ppat.1003434.pdf
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Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver.

The Pharmacogenomics Journal
Schröder, A A; Klein, K K; Winter, S S; Schwab, M M; Bonin, M M; Zell, A A; Zanger, U M UM
Publication Date: 2013-02

Variant appearance in text: rs4252125
PubMed Link: 22006096
Variant Present in the following documents:
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  • tpj201144a.pdf
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Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q.

Journal Of Lipid Research
Ober, Carole C; Nord, Alex S AS; Thompson, Emma E EE; Pan, Lin L; Tan, Zheng Z; Cusanovich, Darren D; Sun, Ying Y; Nicolae, Raluca R; Edelstein, Celina C; Schneider, Daniel H DH; Billstrand, Christine C; Pfaffinger, Ditta D; Phillips, Natasha N; Anderson, Rebecca L RL; Philips, Binu B; Rajagopalan, Ramakrishnan R; Hatsukami, Thomas S TS; Rieder, Mark J MJ; Heagerty, Patrick J PJ; Nickerson, Deborah A DA; Abney, Mark M; Marcovina, Santica S; Jarvik, Gail P GP; Scanu, Angelo M AM; Nicolae, Dan L DL
Publication Date: 2009-05

Variant appearance in text: PLG: D472N; rs4252125
PubMed Link: 19124843
Variant Present in the following documents:
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Plasminogen alleles influence susceptibility to invasive aspergillosis.

Plos Genetics
Zaas, Aimee K AK; Liao, Guochun G; Chien, Jason W JW; Weinberg, Clarice C; Shore, David D; Giles, Steven S SS; Marr, Kieren A KA; Usuka, Jonathan J; Burch, Lauranell H LH; Perera, Lalith L; Perfect, John R JR; Peltz, Gary G; Schwartz, David A DA
Publication Date: 2008-06-20

Variant appearance in text: PLG: Asp472Asn; rs4252125
PubMed Link: 18566672
Variant Present in the following documents:
  • Main text
  • pgen.1000101.pdf
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