GLP2R c.1408G>A ;(p.D470N)

Variant ID: 17-9792768-G-A

NM_004246.1(GLP2R):c.1408G>A;(p.D470N)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Glepaglutide, a novel glucagon-like peptide-2 agonist, has anti-inflammatory and mucosal regenerative effects in an experimental model of inflammatory bowel disease in rats.

Bmc Gastroenterology
Skarbaliene, Jolanta J; Mathiesen, Jesper Mosolff JM; Larsen, Bjarne Due BD; Thorkildsen, Christian C; Petersen, Yvette Miata YM
Publication Date: 2023-03-21

Variant appearance in text: rs17681684
PubMed Link: 36944922
Variant Present in the following documents:
  • Main text
  • 12876_2023_Article_2716.pdf
View BVdb publication page



Causal factors underlying diabetes risk informed by Mendelian randomisation analysis: evidence, opportunities and challenges.

Diabetologia
Yuan, Shuai S; Merino, Jordi J; Larsson, Susanna C SC
Publication Date: 2023-02-14

Variant appearance in text: GLP2R: Asp470Asn; rs17681684
PubMed Link: 36786839
Variant Present in the following documents:
  • Main text
  • 125_2023_Article_5879.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: GLP2R: D470N
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs17681684
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Ethnic disparities attributed to the manifestation in and response to type 2 diabetes: insights from metabolomics.

Metabolomics : Official Journal Of The Metabolomic Society
Vasishta, Sampara S; Ganesh, Kailash K; Umakanth, Shashikiran S; Joshi, Manjunath B MB
Publication Date: 2022-06-28

Variant appearance in text: rs17681684
PubMed Link: 35763080
Variant Present in the following documents:
  • Main text
  • 11306_2022_Article_1905.pdf
View BVdb publication page



mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights.

Metabolites
Chang, Le L; Zhou, Guangyan G; Ou, Huiting H; Xia, Jianguo J
Publication Date: 2022-06-07

Variant appearance in text: rs17681684
PubMed Link: 35736459
Variant Present in the following documents:
  • Main text
  • metabolites-12-00526.pdf
View BVdb publication page



Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.

Communications Biology
Moksnes, Marta R MR; Graham, Sarah E SE; Wu, Kuan-Han KH; Hansen, Ailin Falkmo AF; Gagliano Taliun, Sarah A SA; Zhou, Wei W; Thorstensen, Ketil K; Fritsche, Lars G LG; Gill, Dipender D; Mason, Amy A; Cucca, Francesco F; Schlessinger, David D; Abecasis, Gonçalo R GR; Burgess, Stephen S; Åsvold, Bjørn Olav BO; Nielsen, Jonas B JB; Hveem, Kristian K; Willer, Cristen J CJ; Brumpton, Ben M BM
Publication Date: 2022-06-16

Variant appearance in text: rs17681684
PubMed Link: 35710628
Variant Present in the following documents:
  • 42003_2022_3529_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09

Variant appearance in text: GLP2R: D470N; rs17681684
PubMed Link: 34635181
Variant Present in the following documents:
  • 40364_2021_330_MOESM2_ESM.xlsx, sheet 1
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: GLP2R: 1408G>A; D470N; rs17681684
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
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: GLP2R: D470N; rs17681684
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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: GLP2R: D470N; rs17681684
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
View BVdb publication page



Gene x Gene Interactions Highlight the Role of Incretin Resistance for Insulin Secretion.

Frontiers In Endocrinology
Jaghutriz, Benjamin Assad BA; Heni, Martin M; Lutz, Stefan Zoltán SZ; Fritsche, Louise L; Machicao, Fausto F; Staiger, Harald H; Peter, Andreas A; Häring, Hans-Ulrich HU; Fritsche, Andreas A; Wagner, Róbert R
Publication Date: 2019

Variant appearance in text: rs17681684
PubMed Link: 30846969
Variant Present in the following documents:
  • Main text
  • fendo-10-00072.pdf
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: GLP2R: 1408G>A; Asp470Asn; rs17681684
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



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: GLP2R: D470N
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, 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: GLP2R: D470N; rs17681684
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Genetic determinants of circulating GIP and GLP-1 concentrations.

Jci Insight
Almgren, Peter P; Lindqvist, Andreas A; Krus, Ulrika U; Hakaste, Liisa L; Ottosson-Laakso, Emilia E; Asplund, Olof O; Sonestedt, Emily E; Prasad, Rashmi B RB; Laurila, Esa E; Orho-Melander, Marju M; Melander, Olle O; Tuomi, Tiinamaija T; Holst, Jens Juul JJ; Nilsson, Peter M PM; Wierup, Nils N; Groop, Leif L; Ahlqvist, Emma E
Publication Date: 2017-11-02

Variant appearance in text: GLP2R: Asp470Asn; rs17681684
PubMed Link: 29093273
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.

Diabetes
Scott, Robert A RA; Scott, Laura J LJ; Mägi, Reedik R; Marullo, Letizia L; Gaulton, Kyle J KJ; Kaakinen, Marika M; Pervjakova, Natalia N; Pers, Tune H TH; Johnson, Andrew D AD; Eicher, John D JD; Jackson, Anne U AU; Ferreira, Teresa T; Lee, Yeji Y; Ma, Clement C; Steinthorsdottir, Valgerdur V; Thorleifsson, Gudmar G; Qi, Lu L; Van Zuydam, Natalie R NR; Mahajan, Anubha A; Chen, Han H; Almgren, Peter P; Voight, Ben F BF; Grallert, Harald H; Müller-Nurasyid, Martina M; Ried, Janina S JS; Rayner, Nigel W NW; Robertson, Neil N; Karssen, Lennart C LC; van Leeuwen, Elisabeth M EM; Willems, Sara M SM; Fuchsberger, Christian C; Kwan, Phoenix P; Teslovich, Tanya M TM; Chanda, Pritam P; Li, Man M; Lu, Yingchang Y; Dina, Christian C; Thuillier, Dorothee D; Yengo, Loic L; Jiang, Longda L; Sparso, Thomas T; Kestler, Hans A HA; Chheda, Himanshu H; Eisele, Lewin L; Gustafsson, Stefan S; Frånberg, Mattias M; Strawbridge, Rona J RJ; Benediktsson, Rafn R; Hreidarsson, Astradur B AB; Kong, Augustine A; Sigurðsson, Gunnar G; Kerrison, Nicola D ND; Luan, Jian'an J; Liang, Liming L; Meitinger, Thomas T; Roden, Michael M; Thorand, Barbara B; Esko, Tõnu T; Mihailov, Evelin E; Fox, Caroline C; Liu, Ching-Ti CT; Rybin, Denis D; Isomaa, Bo B; Lyssenko, Valeriya V; Tuomi, Tiinamaija T; Couper, David J DJ; Pankow, James S JS; Grarup, Niels N; Have, Christian T CT; Jørgensen, Marit E ME; Jørgensen, Torben T; Linneberg, Allan A; Cornelis, Marilyn C MC; van Dam, Rob M RM; Hunter, David J DJ; Kraft, Peter P; Sun, Qi Q; Edkins, Sarah S; Owen, Katharine R KR; Perry, John R B JRB; Wood, Andrew R AR; Zeggini, Eleftheria E; Tajes-Fernandes, Juan J; Abecasis, Goncalo R GR; Bonnycastle, Lori L LL; Chines, Peter S PS; Stringham, Heather M HM; Koistinen, Heikki A HA; Kinnunen, Leena L; Sennblad, Bengt B; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Pechlivanis, Sonali S; Baldassarre, Damiano D; Gertow, Karl K; Humphries, Steve E SE; Tremoli, Elena E; Klopp, Norman N; Meyer, Julia J; Steinbach, Gerald G; Wennauer, Roman R; Eriksson, Johan G JG; Mӓnnistö, Satu S; Peltonen, Leena L; Tikkanen, Emmi E; Charpentier, Guillaume G; Eury, Elodie E; Lobbens, Stéphane S; Gigante, Bruna B; Leander, Karin K; McLeod, Olga O; Bottinger, Erwin P EP; Gottesman, Omri O; Ruderfer, Douglas D; Blüher, Matthias M; Kovacs, Peter P; Tonjes, Anke A; Maruthur, Nisa M NM; Scapoli, Chiara C; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Moebus, Susanne S; de Faire, Ulf U; Hamsten, Anders A; Stumvoll, Michael M; Deloukas, Panagiotis P; Donnelly, Peter J PJ; Frayling, Timothy M TM; Hattersley, Andrew T AT; Ripatti, Samuli S; Salomaa, Veikko V; Pedersen, Nancy L NL; Boehm, Bernhard O BO; Bergman, Richard N RN; Collins, Francis S FS; Mohlke, Karen L KL; Tuomilehto, Jaakko J; Hansen, Torben T; Pedersen, Oluf O; Barroso, Inês I; Lannfelt, Lars L; Ingelsson, Erik E; Lind, Lars L; Lindgren, Cecilia M CM; Cauchi, Stephane S; Froguel, Philippe P; Loos, Ruth J F RJF; Balkau, Beverley B; Boeing, Heiner H; Franks, Paul W PW; Barricarte Gurrea, Aurelio A; Palli, Domenico D; van der Schouw, Yvonne T YT; Altshuler, David D; Groop, Leif C LC; Langenberg, Claudia C; Wareham, Nicholas J NJ; Sijbrands, Eric E; van Duijn, Cornelia M CM; Florez, Jose C JC; Meigs, James B JB; Boerwinkle, Eric E; Gieger, Christian C; Strauch, Konstantin K; Metspalu, Andres A; Morris, Andrew D AD; Palmer, Colin N A CNA; Hu, Frank B FB; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Dupuis, Josée J; Morris, Andrew P AP; Boehnke, Michael M; McCarthy, Mark I MI; Prokopenko, Inga I; ,
Publication Date: 2017-11

Variant appearance in text: GLP2R: D470N; rs17681684
PubMed Link: 28566273
Variant Present in the following documents:
  • Main text
  • db161253.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: rs17681684
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: GLP2R: D470N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: GLP2R: D470N; rs17681684
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
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: GLP2R: D470N
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: GLP2R: D470N; rs17681684
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: GLP2R: D470N
PubMed Link: 24705254
Variant Present in the following documents:
  • NIHMS4215-supplement-10.xlsx, sheet 2
View BVdb publication page



Genome-wide gene-set analysis for identification of pathways associated with alcohol dependence.

The International Journal Of Neuropsychopharmacology
Biernacka, Joanna M JM; Geske, Jennifer J; Jenkins, Gregory D GD; Colby, Colin C; Rider, David N DN; Karpyak, Victor M VM; Choi, Doo-Sup DS; Fridley, Brooke L BL
Publication Date: 2013-03

Variant appearance in text: rs17681684
PubMed Link: 22717047
Variant Present in the following documents:
  • Main text
View BVdb publication page