PSEN2 c.185G>A ;(p.R62H)

Variant ID: 1-227071449-G-A

NM_000447.2(PSEN2):c.185G>A;(p.R62H)

This variant was identified in 46 publications

View GRCh38 version.




Publications:


Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08

Variant appearance in text: PSEN2: Arg62His
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.pdf
View BVdb publication page



PLA2G6-associated late-onset parkinsonism in a Sudanese family.

Annals Of Clinical And Translational Neurology
Bakhit, Yousuf Y; Tesson, Christelle C; Ibrahim, Mohamed O MO; Eltom, Khalid K; Eltazi, Isra I; Elsayed, Liena E O LEO; Lesage, Suzanne S; Seidi, Osheik O; Corvol, Jean-Christophe JC; Wüllner, Ullrich U; ,
Publication Date: 2023-05-03

Variant appearance in text: PSEN2: 185G>A; Arg62His; rs58973334
PubMed Link: 37139542
Variant Present in the following documents:
  • ACN3-10-983-s002.xlsx, sheet 1
View BVdb publication page



Notch signaling pathway: a comprehensive prognostic and gene expression profile analysis in breast cancer.

Bmc Cancer
Yousefi, Hassan H; Bahramy, Afshin A; Zafari, Narges N; Delavar, Mahsa Rostamian MR; Nguyen, Khoa K; Haghi, Atousa A; Kandelouei, Tahmineh T; Vittori, Cecilia C; Jazireian, Parham P; Maleki, Sajad S; Imani, Danyal D; Moshksar, Amin A; Bitaraf, Amirreza A; Babashah, Sadegh S
Publication Date: 2022-12-07

Variant appearance in text: PSEN2: R62H
PubMed Link: 36476410
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10383.pdf
View BVdb publication page



PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2022-11-01

Variant appearance in text: PSEN2: Arg62His
PubMed Link: 36362122
Variant Present in the following documents:
  • Main text
  • ijms-23-13331.pdf
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: PSEN2: R62H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: PSEN2: 185G>A; R62H
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Phosphorylated Tau 181 Serum Levels Predict Alzheimer's Disease in the Preclinical Stage.

Frontiers In Aging Neuroscience
Qin, Wei W; Li, Fangyu F; Jia, Longfei L; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Li, Yan Y; Jin, Hongmei H; Jia, Jianping J
Publication Date: 2022

Variant appearance in text: PSEN2: R62H
PubMed Link: 35769604
Variant Present in the following documents:
  • Main text
  • fnagi-14-900773.pdf
  • Data_Sheet_1.pdf
View BVdb publication page



The Ageing Brain: Molecular and Cellular Basis of Neurodegeneration.

Frontiers In Cell And Developmental Biology
Azam, Shofiul S; Haque, Md Ezazul ME; Balakrishnan, Rengasamy R; Kim, In-Su IS; Choi, Dong-Kug DK
Publication Date: 2021

Variant appearance in text: PSEN2: R62H
PubMed Link: 34485280
Variant Present in the following documents:
  • Main text
  • fcell-09-683459.pdf
View BVdb publication page



The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia.

International Journal Of Environmental Research And Public Health
Klimkowicz-Mrowiec, Aleksandra A; Dziubek, Anna A; Sado, Małgorzata M; Karpiński, Marek M; Gorzkowska, Agnieszka A
Publication Date: 2021-08-12

Variant appearance in text: PSEN2: 185G>A; Arg62His
PubMed Link: 34444269
Variant Present in the following documents:
  • Main text
  • ijerph-18-08520.pdf
View BVdb publication page



Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G
Publication Date: 2021-07

Variant appearance in text: PSEN2: 185G>A; Arg62His
PubMed Link: 33170376
Variant Present in the following documents:
  • 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy
Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,
Publication Date: 2020-09-11

Variant appearance in text: PSEN2: R62H
PubMed Link: 32917274
Variant Present in the following documents:
  • Main text
  • 13195_2020_Article_676.pdf
View BVdb publication page



Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: PSEN2: 185G>A; R62H; rs58973334
PubMed Link: 32345996
Variant Present in the following documents:
  • Main text
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30

Variant appearance in text: PSEN2: R62H
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page



Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease
Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM
Publication Date: 2020-06

Variant appearance in text: PSEN2: R62H
PubMed Link: 32087291
Variant Present in the following documents:
  • Main text
  • NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
  • NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
  • nihms-1588025.pdf
View BVdb publication page



Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

Annals Of Clinical And Translational Neurology
Braggin, Jacquelyn E JE; Bucks, Stephanie A SA; Course, Meredith M MM; Smith, Carole L CL; Sopher, Bryce B; Osnis, Leah L; Shuey, Kiel D KD; Domoto-Reilly, Kimiko K; Caso, Christina C; Kinoshita, Chizuru C; Scherpelz, Kathryn P KP; Cross, Chloe C; Grabowski, Thomas T; Nik, Seyyed H M SHM; Newman, Morgan M; Garden, Gwenn A GA; Leverenz, James B JB; Tsuang, Debby D; Latimer, Caitlin C; Gonzalez-Cuyar, Luis F LF; Keene, Christopher Dirk CD; Morrison, Richard S RS; Rhoads, Kristoffer K; Wijsman, Ellen M EM; Dorschner, Michael O MO; Lardelli, Michael M; Young, Jessica E JE; Valdmanis, Paul N PN; Bird, Thomas D TD; Jayadev, Suman S
Publication Date: 2019-04

Variant appearance in text: PSEN2: R62H
PubMed Link: 31020001
Variant Present in the following documents:
  • Main text
  • ACN3-6-762.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PSEN2: 185G>A; Arg62His
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Dementia with Lewy bodies: an update and outlook.

Molecular Neurodegeneration
Outeiro, Tiago Fleming TF; Koss, David J DJ; Erskine, Daniel D; Walker, Lauren L; Kurzawa-Akanbi, Marzena M; Burn, David D; Donaghy, Paul P; Morris, Christopher C; Taylor, John-Paul JP; Thomas, Alan A; Attems, Johannes J; McKeith, Ian I
Publication Date: 2019-01-21

Variant appearance in text: PSEN2: R62H
PubMed Link: 30665447
Variant Present in the following documents:
  • Main text
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: PSEN2: R62H; rs58973334
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy
Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM
Publication Date: 2018-07-25

Variant appearance in text: PSEN2: R62H
PubMed Link: 30045758
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_400.pdf
View BVdb publication page



Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience
Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA
Publication Date: 2018

Variant appearance in text: PSEN2: R62H
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
  • fnins-12-00230.pdf
View BVdb publication page



Identification of missing variants by combining multiple analytic pipelines.

Bmc Bioinformatics
Ren, Yingxue Y; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Tian, Shulan S; Sinnwell, Jason P JP; McDonnell, Shannon K SK; Biernacka, Joanna M JM; Carrasquillo, Minerva M MM; Ross, Owen A OA; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew M; Mainzer, Liudmila Sergeevna LS; Asmann, Yan W YW
Publication Date: 2018-04-16

Variant appearance in text: PSEN2: R62H
PubMed Link: 29661148
Variant Present in the following documents:
  • 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Presenilin Mutation Suppresses Lung Tumorigenesis via Inhibition of Peroxiredoxin 6 Activity and Expression.

Theranostics
Park, Mi Hee MH; Yun, Hyung-Mun HM; Hwang, Chul Ju CJ; Park, Sang Ick SI; Han, Sang Bae SB; Hwang, Dae Youn DY; Yoon, Do-Young DY; Kim, Sanghyeon S; Hong, Jin Tae JT
Publication Date: 2017

Variant appearance in text: PS2: R62H
PubMed Link: 29109765
Variant Present in the following documents:
  • Main text
  • thnov07p3624.pdf
View BVdb publication page



A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.

Clinical Interventions In Aging
Park, Kyung Won KW; An, Seong Soo SS; Bagyinszky, Eva E; Kim, SangYun S
Publication Date: 2017

Variant appearance in text: PSEN2: R62H
PubMed Link: 28243073
Variant Present in the following documents:
  • Main text
  • cia-12-367.pdf
View BVdb publication page



Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Journal Of Alzheimer'S Disease : Jad
N'Songo, Aurelie A; Carrasquillo, Minerva M MM; Wang, Xue X; Nguyen, Thuy T; Asmann, Yan Y; Younkin, Steven G SG; Allen, Mariet M; Duara, Ranjan R; Custo, Maria T Greig MT; Graff-Radford, Neill N; Ertekin-Taner, Nilüfer N
Publication Date: 2017

Variant appearance in text: PSEN2: Arg62His; rs58973334
PubMed Link: 28106563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a Japanese Population.

Dementia And Geriatric Cognitive Disorders Extra
Suzuki, Ayako A; Shibata, Nobuto N; Kasanuki, Koji K; Nagata, Tomoyuki T; Shinagawa, Shunichiro S; Kobayashi, Nobuyuki N; Ohnuma, Tohru T; Takeshita, Yoshihide Y; Kawai, Eri E; Takayama, Toshiki T; Nishioka, Kenya K; Motoi, Yumiko Y; Hattori, Nobutaka N; Nakayama, Kazuhiko K; Yamada, Hisashi H; Arai, Heii H
Publication Date: 2016

Variant appearance in text: PSEN2: R62H
PubMed Link: 27065294
Variant Present in the following documents:
  • Main text
  • dee-0006-0090.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: AD4: R62H; rs58973334
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: PSEN2: R62H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Clinical Interventions In Aging
Cai, Yan Y; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2015

Variant appearance in text: PSEN2: R62H
PubMed Link: 26203236
Variant Present in the following documents:
  • Main text
  • cia-10-1163.pdf
View BVdb publication page



Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.

Expert Review Of Molecular Diagnostics
Reitz, Christiane C
Publication Date: 2015-03

Variant appearance in text: PSEN2: R62H
PubMed Link: 25634383
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

European Journal Of Human Genetics : Ejhg
Schulte, Eva C EC; Fukumori, Akio A; Mollenhauer, Brit B; Hor, Hyun H; Arzberger, Thomas T; Perneczky, Robert R; Kurz, Alexander A; Diehl-Schmid, Janine J; Hüll, Michael M; Lichtner, Peter P; Eckstein, Gertrud G; Zimprich, Alexander A; Haubenberger, Dietrich D; Pirker, Walter W; Brücke, Thomas T; Bereznai, Benjamin B; Molnar, Maria J MJ; Lorenzo-Betancor, Oswaldo O; Pastor, Pau P; Peters, Annette A; Gieger, Christian C; Estivill, Xavier X; Meitinger, Thomas T; Kretzschmar, Hans A HA; Trenkwalder, Claudia C; Haass, Christian C; Winkelmann, Juliane J
Publication Date: 2015-10

Variant appearance in text: PSEN2: 185G>A; R62H; rs58973334
PubMed Link: 25604855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease-related mutations among Caribbean Hispanics with familial dementia.

Molecular Genetics & Genomic Medicine
Lee, Joseph H JH; Kahn, Amanda A; Cheng, Rong R; Reitz, Christiane C; Vardarajan, Badri B; Lantigua, Rafael R; Medrano, Martin M; Jiménez-Velázquez, Ivonne Z IZ; Williamson, Jennifer J; Nagy, Peter P; Mayeux, Richard R
Publication Date: 2014-09

Variant appearance in text: PSEN2: Arg62His
PubMed Link: 25333068
Variant Present in the following documents:
  • Main text
  • mgg30002-0430.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PSEN2: R62H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,
Publication Date: 2014-11

Variant appearance in text: PSEN2: Arg62His
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Neurobiology Of Aging
Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Al-Sarraj, Safa S; Niblock, Michael M; Gallo, Jean-Marc JM; Adnan, Jihad J; Killick, Richard R; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J
Publication Date: 2014-12

Variant appearance in text: PSEN2: 185G>A; R62H; rs58973334
PubMed Link: 25104557
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alzheimer's disease genetics: from the bench to the clinic.

Neuron
Karch, Celeste M CM; Cruchaga, Carlos C; Goate, Alison M AM
Publication Date: 2014-07-02

Variant appearance in text: PSEN2: R62H
PubMed Link: 24991952
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of presenilin 2 is associated with increased iPLA2 activity and lung tumor development.

Oncogene
Yun, H-M HM; Park, M H MH; Kim, D H DH; Ahn, Y J YJ; Park, K-R KR; Kim, T M TM; Yun, N Y NY; Jung, Y S YS; Hwang, D Y DY; Yoon, D Y DY; Han, S B SB; Hong, J T JT
Publication Date: 2014-10-30

Variant appearance in text: PS2: R62H
PubMed Link: 24858037
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Alzheimer's disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: PSEN2: Arg62His
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: PSEN2: R62H; rs58973334
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Plos Genetics
Benitez, Bruno A BA; Karch, Celeste M CM; Cai, Yefei Y; Jin, Sheng Chih SC; Cooper, Breanna B; Carrell, David D; Bertelsen, Sarah S; Chibnik, Lori L; Schneider, Julie A JA; Bennett, David A DA; , ; , ; Fagan, Anne M AM; Holtzman, David D; Morris, John C JC; Goate, Alison M AM; Cruchaga, Carlos C
Publication Date: 2013

Variant appearance in text: PSEN2: R62H; rs58973334
PubMed Link: 23990795
Variant Present in the following documents:
  • Main text
  • pgen.1003685.pdf
View BVdb publication page



C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

American Journal Of Neurodegenerative Disease
Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2012

Variant appearance in text: PSEN2: 185G>A; Arg62His; rs58973334
PubMed Link: 23383383
Variant Present in the following documents:
  • Main text
View BVdb publication page