GBA c.1279G>A ;(p.E427K)

Variant ID: 1-155205581-C-T

NM_000157.3(GBA):c.1279G>A;(p.E427K)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics
Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J
Publication Date: 2023-06-13

Variant appearance in text: GBA1: E427K
PubMed Link: 37312046
Variant Present in the following documents:
  • 12864_2023_9417_MOESM1_ESM.pdf
View BVdb publication page



GBA variants influence cognitive status in amyotrophic lateral sclerosis.

Journal Of Neurology, Neurosurgery, And Psychiatry
Canosa, Antonio A; Grassano, Maurizio M; Moglia, Cristina C; Iazzolino, Barbara B; Peotta, Laura L; Gallone, Salvatore S; Brunetti, Maura M; Barberis, Marco M; Sbaiz, Luca L; Palumbo, Francesca F; Cabras, Sara S; Manera, Umberto U; Vasta, Rosario R; Traynor, Bryan B; Corrado, Lucia L; D'Alfonso, Sandra S; Mazzini, Letizia L; Calvo, Andrea A; Chio, Adriano A
Publication Date: 2022-04

Variant appearance in text: GBA: E427K; rs149171124
PubMed Link: 34583942
Variant Present in the following documents:
  • jnnp-2021-327426supp001.pdf
View BVdb publication page



Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration
Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T
Publication Date: 2021-06-21

Variant appearance in text: GBA: E427K; rs149171124
PubMed Link: 34148545
Variant Present in the following documents:
  • 13024_2021_455_MOESM1_ESM.pdf
View BVdb publication page



Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.

Neurology. Genetics
Oliveira, Lais M LM; Rastin, Tara T; Nimmo, Graeme A M GAM; Ross, Jay P JP; Dion, Patrick A PA; Zhang, Ming M; Nevay, Dayna-Lynn DL; Arkadir, David D; Gotkine, Marc M; Barnett, Carolina C; Shoesmith, Christen L CL; Zimran, Ari A; Rogaeva, Ekaterina A EA; Zinman, Lorne L; Rouleau, Guy A GA; Gan-Or, Ziv Z; Amato, Dominick D; Kalia, Lorraine V LV
Publication Date: 2021-08

Variant appearance in text: rs149171124
PubMed Link: 34017912
Variant Present in the following documents:
  • NG2021016975.pdf
View BVdb publication page



Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.

Jama Network Open
Ortega, Roberto A RA; Wang, Cuiling C; Raymond, Deborah D; Bryant, Nicole N; Scherzer, Clemens R CR; Thaler, Avner A; Alcalay, Roy N RN; West, Andrew B AB; Mirelman, Anat A; Kuras, Yuliya Y; Marder, Karen S KS; Giladi, Nir N; Ozelius, Laurie J LJ; Bressman, Susan B SB; Saunders-Pullman, Rachel R
Publication Date: 2021-04-01

Variant appearance in text: GBA: E427K
PubMed Link: 33881531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GBA: E427K
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

Movement Disorders : Official Journal Of The Movement Disorder Society
den Heijer, Jonas M JM; Cullen, Valerie C VC; Quadri, Marialuisa M; Schmitz, Arnoud A; Hilt, Dana C DC; Lansbury, Peter P; Berendse, Henk W HW; van de Berg, Wilma D J WDJ; de Bie, Rob M A RMA; Boertien, Jeffrey M JM; Boon, Agnita J W AJW; Contarino, M Fiorella MF; van Hilten, Jacobus J JJ; Hoff, Jorrit I JI; van Mierlo, Tom T; Munts, Alex G AG; van der Plas, Anne A AA; Ponsen, Mirthe M MM; Baas, Frank F; Majoor-Krakauer, Danielle D; Bonifati, Vincenzo V; van Laar, Teus T; Groeneveld, Geert J GJ
Publication Date: 2020-09

Variant appearance in text: GBA: Glu427Lys; rs149171124
PubMed Link: 32618053
Variant Present in the following documents:
  • Main text
  • MDS-35-1667.pdf
View BVdb publication page



Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Acta Neuropathologica Communications
Orme, Tatiana T; Hernandez, Dena D; Ross, Owen A OA; Kun-Rodrigues, Celia C; Darwent, Lee L; Shepherd, Claire E CE; Parkkinen, Laura L; Ansorge, Olaf O; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Londos, Elisabet E; Zetterberg, Henrik H; Morgan, Kevin K; Troakes, Claire C; Al-Sarraj, Safa S; Lashley, Tammaryn T; Holton, Janice J; Compta, Yaroslau Y; Van Deerlin, Vivianna V; Trojanowski, John Q JQ; Serrano, Geidy E GE; Beach, Thomas G TG; Lesage, Suzanne S; Galasko, Douglas D; Masliah, Eliezer E; Santana, Isabel I; Pastor, Pau P; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Revesz, Tamas T; Lees, Andrew A; Boeve, Brad F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; Escott-Price, Valentina V; Graff-Radford, Neill N; Cairns, Nigel J NJ; Morris, John C JC; Pickering-Brown, Stuart S; Mann, David D; Halliday, Glenda G; Stone, David J DJ; Dickson, Dennis W DW; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R; Bras, Jose J
Publication Date: 2020-01-29

Variant appearance in text: GBA: Glu427Lys; rs149171124
PubMed Link: 31996268
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_879.pdf
View BVdb publication page



The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.

Parkinsonism & Related Disorders
Velez-Pardo, Carlos C; Lorenzo-Betancor, Oswaldo O; Jimenez-Del-Rio, Marlene M; Moreno, Sonia S; Lopera, Francisco F; Cornejo-Olivas, Mario M; Torres, Luis L; Inca-Martinez, Miguel M; Mazzetti, Pilar P; Cosentino, Carlos C; Yearout, Dora D; Waldherr, Sarah M SM; Zabetian, Cyrus P CP; Mata, Ignacio F IF
Publication Date: 2019-06

Variant appearance in text: rs149171124
PubMed Link: 30765263
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

Movement Disorders : Official Journal Of The Movement Disorder Society
Blauwendraat, Cornelis C; Bras, Jose M JM; Nalls, Mike A MA; Lewis, Patrick A PA; Hernandez, Dena G DG; Singleton, Andrew B AB; ,
Publication Date: 2018-11

Variant appearance in text: GBA: E427K; rs149171124
PubMed Link: 30302829
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mixed ductal-lobular carcinomas: evidence for progression from ductal to lobular morphology.

The Journal Of Pathology
McCart Reed, Amy E AE; Kutasovic, Jamie R JR; Nones, Katia K; Saunus, Jodi M JM; Da Silva, Leonard L; Newell, Felicity F; Kazakoff, Stephen S; Melville, Lewis L; Jayanthan, Janani J; Vargas, Ana Cristina AC; Reid, Lynne E LE; Beesley, Jonathan J; Chen, Xiao Qing XQ; Patch, Anne-Marie AM; Clouston, David D; Porter, Alan A; Evans, Elizabeth E; Pearson, John V JV; Chenevix-Trench, Georgia G; Cummings, Margaret C MC; Waddell, Nicola N; Lakhani, Sunil R SR; Simpson, Peter T PT
Publication Date: 2018-04

Variant appearance in text: GBA: 1279G>A; Glu427Lys; rs149171124
PubMed Link: 29344954
Variant Present in the following documents:
  • PATH-244-460-s008.xlsx, sheet 3
View BVdb publication page



Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Molecular Neurodegeneration
Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C
Publication Date: 2016-04-19

Variant appearance in text: GBA: E427K
PubMed Link: 27094865
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_97.pdf
View BVdb publication page



Glucocerebrosidase mutations in primary parkinsonism.

Parkinsonism & Related Disorders
Asselta, Rosanna R; Rimoldi, Valeria V; Siri, Chiara C; Cilia, Roberto R; Guella, Ilaria I; Tesei, Silvana S; Soldà, Giulia G; Pezzoli, Gianni G; Duga, Stefano S; Goldwurm, Stefano S
Publication Date: 2014-11

Variant appearance in text: GBA: 1279G>A; rs149171124
PubMed Link: 25249066
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs149171124
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page



Association of glucocerebrosidase mutations with dementia with lewy bodies.

Archives Of Neurology
Clark, Lorraine N LN; Kartsaklis, Lykourgos A LA; Wolf Gilbert, Rebecca R; Dorado, Beatriz B; Ross, Barbara M BM; Kisselev, Sergey S; Verbitsky, Miguel M; Mejia-Santana, Helen H; Cote, Lucien J LJ; Andrews, Howard H; Vonsattel, Jean-Paul JP; Fahn, Stanley S; Mayeux, Richard R; Honig, Lawrence S LS; Marder, Karen K
Publication Date: 2009-05

Variant appearance in text: GBA: 1279G>A
PubMed Link: 19433657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.

Neurobiology Of Aging
Bras, Jose J; Paisan-Ruiz, Coro C; Guerreiro, Rita R; Ribeiro, Maria Helena MH; Morgadinho, Ana A; Januario, Cristina C; Sidransky, Ellen E; Oliveira, Catarina C; Singleton, Andrew A
Publication Date: 2009-09

Variant appearance in text: GBA: E427K
PubMed Link: 18160183
Variant Present in the following documents:
  • Main text
View BVdb publication page