GRN c.1297C>T ;(p.R433W)

Variant ID: 17-42429500-C-T

NM_002087.2(GRN):c.1297C>T;(p.R433W)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Frontotemporal Dementia and Glucose Metabolism.

Frontiers In Neuroscience
Garrett, Liam Rodney LR; Niccoli, Teresa T
Publication Date: 2022

Variant appearance in text: GRN: R433W
PubMed Link: 35281504
Variant Present in the following documents:
  • Main text
  • fnins-16-812222.pdf
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Progranulin mutations in clinical and neuropathological Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Vardarajan, Badri N BN; Reyes-Dumeyer, Dolly D; Piriz, Angel L AL; Lantigua, Rafael A RA; Medrano, Martin M; Rivera, Diones D; Jiménez-Velázquez, Ivonne Z IZ; Martin, Eden E; Pericak-Vance, Margaret A MA; Bush, William W; Farrer, Lindsay L; Haines, Jonathan L JL; Wang, Li-San LS; Leung, Yuk Yee YY; Schellenberg, Gerard G; Kukull, Walter W; De Jager, Philip P; Bennett, David A DA; Schneider, Julie A JA; , ; Mayeux, Richard R
Publication Date: 2022-02-09

Variant appearance in text: GRN: Arg433Trp
PubMed Link: 35258170
Variant Present in the following documents:
  • Main text
  • ALZ-18-2458.pdf
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Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Torres, Guillermo G GG; Nygaard, Marianne M; Caliebe, Amke A; Blanché, Hélène H; Chantalat, Sophie S; Galan, Pilar P; Lieb, Wolfgang W; Christiansen, Lene L; Deleuze, Jean-François JF; Christensen, Kaare K; Strauch, Konstantin K; Müller-Nurasyid, Martina M; Peters, Annette A; Nöthen, Markus M MM; Hoffmann, Per P; Flachsbart, Friederike F; Schreiber, Stefan S; Ellinghaus, David D; Franke, Andre A; Dose, Janina J; Nebel, Almut A
Publication Date: 2021-04-30

Variant appearance in text: rs63750412
PubMed Link: 33491046
Variant Present in the following documents:
  • Main text
  • glab023.pdf
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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: GRN: 1297C>T; R433W; rs63750412
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: GRN: R433W
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 63
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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: GRN: R433W
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 3
  • mmc6.xlsx, sheet 2
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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: GRN: R433W; rs63750412
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
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: GRN: R433W
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
  • fnins-12-00230.pdf
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Identification of NCAN as a candidate gene for developmental dyslexia.

Scientific Reports
Einarsdottir, Elisabet E; Peyrard-Janvid, Myriam M; Darki, Fahimeh F; Tuulari, Jetro J JJ; Merisaari, Harri H; Karlsson, Linnea L; Scheinin, Noora M NM; Saunavaara, Jani J; Parkkola, Riitta R; Kantojärvi, Katri K; Ämmälä, Antti-Jussi AJ; Yiu-Lin Yu, Nancy N; Matsson, Hans H; Nopola-Hemmi, Jaana J; Karlsson, Hasse H; Paunio, Tiina T; Klingberg, Torkel T; Leinonen, Eira E; Kere, Juha J
Publication Date: 2017-08-24

Variant appearance in text: GRN: R433W; rs63750412
PubMed Link: 28839234
Variant Present in the following documents:
  • 41598_2017_10175_MOESM3_ESM.xls, sheet 1
  • 41598_2017_10175_MOESM4_ESM.xls, sheet 1
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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research
Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2017-01

Variant appearance in text: GRN: R433W
PubMed Link: 28003435
Variant Present in the following documents:
  • supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 8
  • supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 8
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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: GRN: R433W; rs63750412
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.

Neurobiology Of Aging
Karch, Celeste M CM; Ezerskiy, Lubov L; Redaelli, Veronica V; Giovagnoli, Anna Rita AR; Tiraboschi, Pietro P; Pelliccioni, Giuseppe G; Pelliccioni, Paolo P; Kapetis, Dimos D; D'Amato, Ilaria I; Piccoli, Elena E; Ferretti, Maria Giulia MG; Tagliavini, Fabrizio F; Rossi, Giacomina G
Publication Date: 2016-02

Variant appearance in text: GRN: R433W
PubMed Link: 26652843
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: GRN: 1297C>T; R433W; rs63750412
PubMed Link: 25604855
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: GRN: 1297C>T; R433W; rs63750412
PubMed Link: 25104557
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: GRN: R433W
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
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: GRN: R433W; rs63750412
PubMed Link: 23990795
Variant Present in the following documents:
  • Main text
  • pgen.1003685.pdf
View BVdb publication page



Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.

European Journal Of Human Genetics : Ejhg
Chiang, Huei-Hsin HH; Forsell, Charlotte C; Lilius, Lena L; Öijerstedt, Linn L; Thordardottir, Steinunn S; Shanmugarajan, Krishnan K; Westerlund, Marie M; Nennesmo, Inger I; Thonberg, Håkan H; Graff, Caroline C
Publication Date: 2013-11

Variant appearance in text: GRN: 1297C>T; Arg433Trp; rs63750412
PubMed Link: 23463024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel progranulin mutation detected in 2 patients with FTLD.

Alzheimer Disease And Associated Disorders
Skoglund, Lena L; Matsui, Toshifumi T; Freeman, Stefanie H SH; Wallin, Anders A; Blom, Elin S ES; Frosch, Matthew P MP; Growdon, John H JH; Hyman, Bradley T BT; Lannfelt, Lars L; Ingelsson, Martin M; Glaser, Anna A
Publication Date: 2011

Variant appearance in text: PGRN: 1297C>T
PubMed Link: 20975516
Variant Present in the following documents:
  • Main text
View BVdb publication page



A thorough assessment of benign genetic variability in GRN and MAPT.

Human Mutation
Guerreiro, Rita J RJ; Washecka, Nicole N; Hardy, John J; Singleton, Andrew A
Publication Date: 2010-02

Variant appearance in text: GRN: R433W
PubMed Link: 20020531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and pathological continuum of multisystem TDP-43 proteinopathies.

Archives Of Neurology
Geser, Felix F; Martinez-Lage, Maria M; Robinson, John J; Uryu, Kunihiro K; Neumann, Manuela M; Brandmeir, Nicholas J NJ; Xie, Sharon X SX; Kwong, Linda K LK; Elman, Lauren L; McCluskey, Leo L; Clark, Chris M CM; Malunda, Joe J; Miller, Bruce L BL; Zimmerman, Earl A EA; Qian, Jiang J; Van Deerlin, Vivianna V; Grossman, Murray M; Lee, Virginia M-Y VM; Trojanowski, John Q JQ
Publication Date: 2009-02

Variant appearance in text: PGRN: 1297C>T
PubMed Link: 19204154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.

Brain : A Journal Of Neurology
Finch, NiCole N; Baker, Matt M; Crook, Richard R; Swanson, Katie K; Kuntz, Karen K; Surtees, Rebecca R; Bisceglio, Gina G; Rovelet-Lecrux, Anne A; Boeve, Bradley B; Petersen, Ronald C RC; Dickson, Dennis W DW; Younkin, Steven G SG; Deramecourt, Vincent V; Crook, Julia J; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2009-03

Variant appearance in text: GRN: 1297C>T; R433W
PubMed Link: 19158106
Variant Present in the following documents:
  • Main text
  • awn352.pdf
View BVdb publication page



Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).

Archives Of Neurology
Boeve, Bradley F BF; Hutton, Mike M
Publication Date: 2008-04

Variant appearance in text: PGRN: R433W
PubMed Link: 18413467
Variant Present in the following documents:
  • Main text
View BVdb publication page



A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Brain : A Journal Of Neurology
Beck, Jonathan J; Rohrer, Jonathan D JD; Campbell, Tracy T; Isaacs, Adrian A; Morrison, Karen E KE; Goodall, Emily F EF; Warrington, Elizabeth K EK; Stevens, John J; Revesz, Tamas T; Holton, Janice J; Al-Sarraj, Safa S; King, Andrew A; Scahill, Rachael R; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Collinge, John J; Mead, Simon S
Publication Date: 2008-03

Variant appearance in text: GRN: R433W
PubMed Link: 18234697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.

Human Mutation
Mukherjee, Odity O; Wang, Jun J; Gitcho, Michael M; Chakraverty, Sumi S; Taylor-Reinwald, Lisa L; Shears, Shantia S; Kauwe, John S K JS; Norton, Joanne J; Levitch, Denise D; Bigio, Eileen H EH; Hatanpaa, Kimmo J KJ; White, Charles L CL; Morris, John C JC; Cairns, Nigel J NJ; Goate, Alison A
Publication Date: 2008-04

Variant appearance in text: GRN: R433W
PubMed Link: 18183624
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prominent phenotypic variability associated with mutations in Progranulin.

Neurobiology Of Aging
Kelley, Brendan J BJ; Haidar, Wael W; Boeve, Bradley F BF; Baker, Matt M; Graff-Radford, Neill R NR; Krefft, Thomas T; Frank, Andrew R AR; Jack, Clifford R CR; Shiung, Maria M; Knopman, David S DS; Josephs, Keith A KA; Parashos, Sotirios A SA; Rademakers, Rosa R; Hutton, Mike M; Pickering-Brown, Stuart S; Adamson, Jennifer J; Kuntz, Karen M KM; Dickson, Dennis W DW; Parisi, Joseph E JE; Smith, Glenn E GE; Ivnik, Robert J RJ; Petersen, Ronald C RC
Publication Date: 2009-05

Variant appearance in text: PGRN: R433W
PubMed Link: 17949857
Variant Present in the following documents:
  • Main text
View BVdb publication page