PRSS1 c.65A>G ;(p.D22G)

Variant ID: 7-142458430-A-G

NM_002769.4(PRSS1):c.65A>G;(p.D22G)

This variant was identified in 41 publications

View GRCh38 version.




Publications:


Expanding ACMG variant classification guidelines into a general framework.

Human Genomics
Masson, Emmanuelle E; Zou, Wen-Bin WB; Génin, Emmanuelle E; Cooper, David N DN; Le Gac, Gerald G; Fichou, Yann Y; Pu, Na N; Rebours, Vinciane V; Férec, Claude C; Liao, Zhuan Z; Chen, Jian-Min JM
Publication Date: 2022-08-16

Variant appearance in text: PRSS1: Asp22Gly
PubMed Link: 35974416
Variant Present in the following documents:
  • Main text
  • 40246_2022_Article_407.pdf
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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: PRSS1: Asp22Gly
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
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Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Genes
Wertheim-Tysarowska, Katarzyna K; Oracz, Grzegorz G; Rygiel, Agnieszka Magdalena AM
Publication Date: 2021-05-20

Variant appearance in text: PRSS1: Asp22Gly
PubMed Link: 34065437
Variant Present in the following documents:
  • Main text
  • genes-12-00785.pdf
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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PRSS1: 65A>G; Asp22Gly
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
  • aba1773_Data_file_S1.xlsx, sheet 3
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Hereditary pancreatitis model by blastocyst complementation in mouse.

Oncotarget
Asai, Ayumu A; Konno, Masamitsu M; Kawamoto, Koichi K; Isotani, Ayako A; Mori, Masaki M; Eguchi, Hidetoshi H; Doki, Yuichiro Y; Arai, Takahiro T; Ishii, Hideshi H
Publication Date: 2020-06-02

Variant appearance in text: PRSS1: D22G
PubMed Link: 32547704
Variant Present in the following documents:
  • Main text
  • oncotarget-11-2061.pdf
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Characterization of novel genetic alterations in salivary gland secretory carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Na, Kiyong K; Hernandez-Prera, Juan C JC; Lim, Jae-Yol JY; Woo, Ha Young HY; Yoon, Sun Och SO
Publication Date: 2020-04

Variant appearance in text: PRSS1: D22G
PubMed Link: 31822803
Variant Present in the following documents:
  • Main text
  • 41379_2019_Article_427.pdf
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Etiology and Risk Factors of Acute and Chronic Pancreatitis.

Visceral Medicine
Weiss, Frank Ulrich FU; Laemmerhirt, Felix F; Lerch, Markus M MM
Publication Date: 2019-04

Variant appearance in text: PRSS1: D22G
PubMed Link: 31192240
Variant Present in the following documents:
  • Main text
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Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.

Frontiers In Genetics
Jancsó, Zsanett Z; Oracz, Grzegorz G; Kujko, Aleksandra Anna AA; Kolodziejczyk, Eliwira E; Radisky, Evette S ES; Rygiel, Agnieszka Magdalena AM; Sahin-Tóth, Miklós M
Publication Date: 2019

Variant appearance in text: PRSS1: Asp22Gly
PubMed Link: 30792736
Variant Present in the following documents:
  • Main text
  • fgene-10-00046.pdf
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Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Gastroenterology
Mayerle, Julia J; Sendler, Matthias M; Hegyi, Eszter E; Beyer, Georg G; Lerch, Markus M MM; Sahin-Tóth, Miklós M
Publication Date: 2019-05

Variant appearance in text: PRSS1: D22G
PubMed Link: 30660731
Variant Present in the following documents:
  • Main text
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A preclinical model of chronic pancreatitis driven by trypsinogen autoactivation.

Nature Communications
Geisz, Andrea A; Sahin-Tóth, Miklós M
Publication Date: 2018-11-28

Variant appearance in text: PRSS1: D22G
PubMed Link: 30487519
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7347.pdf
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Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.

Current Genomics
Sikdar, Nilabja N; Saha, Gourab G; Dutta, Ashmita A; Ghosh, Shibajyoti S; Shrikhande, Shailesh V SV; Banerjee, Sudeep S
Publication Date: 2018-09

Variant appearance in text: PRSS1: D22G
PubMed Link: 30258276
Variant Present in the following documents:
  • Main text
  • CG-19-444.pdf
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Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints.

Nature Communications
Bezawork-Geleta, Ayenachew A; Wen, He H; Dong, LanFeng L; Yan, Bing B; Vider, Jelena J; Boukalova, Stepana S; Krobova, Linda L; Vanova, Katerina K; Zobalova, Renata R; Sobol, Margarita M; Hozak, Pavel P; Novais, Silvia Magalhaes SM; Caisova, Veronika V; Abaffy, Pavel P; Naraine, Ravindra R; Pang, Ying Y; Zaw, Thiri T; Zhang, Ping P; Sindelka, Radek R; Kubista, Mikael M; Zuryn, Steven S; Molloy, Mark P MP; Berridge, Michael V MV; Pacak, Karel K; Rohlena, Jakub J; Park, Sunghyouk S; Neuzil, Jiri J
Publication Date: 2018-06-07

Variant appearance in text: rs397507442
PubMed Link: 29880867
Variant Present in the following documents:
  • 41467_2018_4603_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Current Opinion In Gastroenterology
Sahin-Tóth, Miklós M
Publication Date: 2017-09

Variant appearance in text: PRSS1: D22G
PubMed Link: 28650851
Variant Present in the following documents:
  • Main text
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Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.

Digestive Diseases And Sciences
Hegyi, Eszter E; Sahin-Tóth, Miklós M
Publication Date: 2017-07

Variant appearance in text: PRSS1: D22G
PubMed Link: 28536777
Variant Present in the following documents:
  • Main text
  • 10620_2017_Article_4601.pdf
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Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Balázs, Anita A; Hegyi, Péter P; Sahin-Tóth, Miklós M
Publication Date: 2016-04-01

Variant appearance in text: PRSS1: D22G
PubMed Link: 26822915
Variant Present in the following documents:
  • Main text
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Framework for interpretation of trypsin-antitrypsin imbalance and genetic heterogeneity in pancreatitis.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association
Lin, Kun K; Gao, Feng F; Chen, Qingquan Q; Liu, Qicai Q; Chen, Shu S
Publication Date: 2015

Variant appearance in text: PRSS1: D22G
PubMed Link: 26228362
Variant Present in the following documents:
  • Main text
  • SJG-21-198.pdf
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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: PRSS1: D22G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Pancreatic cancer risk in hereditary pancreatitis.

Frontiers In Physiology
Weiss, Frank U FU
Publication Date: 2014

Variant appearance in text: PRSS1: D22G
PubMed Link: 24600409
Variant Present in the following documents:
  • Main text
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Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Németh, Balázs Csaba BC; Sahin-Tóth, Miklós M
Publication Date: 2014-03

Variant appearance in text: PRSS1: 65A>G; D22G
PubMed Link: 24458023
Variant Present in the following documents:
  • Main text
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Familial pancreatic cancer: genetic advances.

Genes & Development
Rustgi, Anil K AK
Publication Date: 2014-01-01

Variant appearance in text: PRSS1: D22G
PubMed Link: 24395243
Variant Present in the following documents:
  • Main text
  • 1.pdf
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Pathophysiology of chronic pancreatitis.

World Journal Of Gastroenterology
Brock, Christina C; Nielsen, Lecia Møller LM; Lelic, Dina D; Drewes, Asbjørn Mohr AM
Publication Date: 2013-11-14

Variant appearance in text: PRSS1: D22G
PubMed Link: 24259953
Variant Present in the following documents:
  • Main text
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Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.

The Febs Journal
Geisz, Andrea A; Hegyi, Péter P; Sahin-Tóth, Miklós M
Publication Date: 2013-06

Variant appearance in text: PRSS1: D22G
PubMed Link: 23601753
Variant Present in the following documents:
  • Main text
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Hereditary pancreatitis for the endoscopist.

Therapeutic Advances In Gastroenterology
Patel, Milan R MR; Eppolito, Amanda L AL; Willingham, Field F FF
Publication Date: 2013-03

Variant appearance in text: PRSS1: D22G
PubMed Link: 23503650
Variant Present in the following documents:
  • Main text
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Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Gut
Schnúr, Andrea A; Beer, Sebastian S; Witt, Heiko H; Hegyi, Péter P; Sahin-Tóth, Miklós M
Publication Date: 2014-02

Variant appearance in text: PRSS1: D22G
PubMed Link: 23455445
Variant Present in the following documents:
  • Main text
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Role of Intrapancreatic SPINK1/Spink3 Expression in the Development of Pancreatitis.

Frontiers In Physiology
Ohmuraya, Masaki M; Sugano, Aki A; Hirota, Masahiko M; Takaoka, Yutaka Y; Yamamura, Ken-Ichi K
Publication Date: 2012

Variant appearance in text: PRSS1: D22G
PubMed Link: 22586407
Variant Present in the following documents:
  • Main text
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Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.

The Journal Of Biological Chemistry
Szabó, András A; Sahin-Tóth, Miklós M
Publication Date: 2012-06-08

Variant appearance in text: PRSS1: D22G
PubMed Link: 22539344
Variant Present in the following documents:
  • Main text
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A common variant of PNPLA3 (p.I148M) is not associated with alcoholic chronic pancreatitis.

Plos One
Rosendahl, Jonas J; Tönjes, Anke A; Schleinitz, Dorit D; Kovacs, Peter P; Wiegand, Johannes J; Ruffert, Claudia C; Jesinghaus, Moritz M; Schober, Robert R; Herms, Max M; Grützmann, Robert R; Schulz, Hans-Ulrich HU; Stickel, Felix F; Werner, Jens J; Bugert, Peter P; Blüher, Matthias M; Stumvoll, Michael M; Böhm, Stephan S; Berg, Thomas T; Wittenburg, Henning H; Mössner, Joachim J; te Morsche, Rene R; Derikx, Monique M; Keim, Volker V; Witt, Heiko H; Drenth, Joost P H JP
Publication Date: 2012

Variant appearance in text: PRSS1: D22G
PubMed Link: 22276112
Variant Present in the following documents:
  • Main text
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Genetic risk for alcoholic chronic pancreatitis.

International Journal Of Environmental Research And Public Health
da Costa, Marianges Zadrozny Gouvêa MZ; Guarita, Dulce Reis DR; Ono-Nita, Suzane Kioko SK; Paranaguá-Vezozzo, Denise Cerqueira DC; Felga, Guilherme Eduardo Gonçalves GE; Pedroso, Martha Regina Arcon MR; de Souza, Marcelo Moreira Tavares MM; Nasser, Paulo Dominguez PD; Ferreira, Camila da Silva Cda S; Carrilho, Flair José FJ
Publication Date: 2011-07

Variant appearance in text: PRSS1: D22G
PubMed Link: 21845156
Variant Present in the following documents:
  • Main text
  • ijerph-08-02747.pdf
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Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.

Pancreas
Joergensen, Maiken T MT; Geisz, Andrea A; Brusgaard, Klaus K; Schaffalitzky de Muckadell, Ove B OB; Hegyi, Péter P; Gerdes, Anne-Marie AM; Sahin-Tóth, Miklós M
Publication Date: 2011-05

Variant appearance in text: PRSS1: D22G
PubMed Link: 21499207
Variant Present in the following documents:
  • Main text
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The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis.

Digestive Diseases And Sciences
Gasiorowska, Anita A; Talar-Wojnarowska, Renata R; Czupryniak, Leszek L; Smolarz, Beata B; Romanowicz-Makowska, Hanna H; Kulig, Andrzej A; Malecka-Panas, Ewa E
Publication Date: 2011-03

Variant appearance in text: PRSS1: D22G
PubMed Link: 20676769
Variant Present in the following documents:
  • Main text
  • 10620_2010_Article_1349.pdf
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Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

Journal Of Medical Genetics
Szmola, Richárd R; Sahin-Tóth, Miklós M
Publication Date: 2010-05

Variant appearance in text: PRSS1: 65A>G; D22G
PubMed Link: 20452997
Variant Present in the following documents:
  • Main text
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Intracellular autoactivation of human cationic trypsinogen mutants causes reduced trypsinogen secretion and acinar cell death.

The Journal Of Biological Chemistry
Kereszturi, Eva E; Sahin-Tóth, Miklós M
Publication Date: 2009-11-27

Variant appearance in text: PRSS1: D22G
PubMed Link: 19801634
Variant Present in the following documents:
  • Main text
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Hereditary chronic pancreatitis.

Orphanet Journal Of Rare Diseases
Rosendahl, Jonas J; Bödeker, Hans H; Mössner, Joachim J; Teich, Niels N
Publication Date: 2007-01-04

Variant appearance in text: PRSS1: D22G
PubMed Link: 17204147
Variant Present in the following documents:
  • Main text
  • 1750-1172-2-1.pdf
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Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Human Mutation
Teich, Niels N; Rosendahl, Jonas J; Tóth, Miklós M; Mössner, Joachim J; Sahin-Tóth, Miklós M
Publication Date: 2006-08

Variant appearance in text: PRSS1: 65A>G; D22G
PubMed Link: 16791840
Variant Present in the following documents:
  • Main text
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Biochemical models of hereditary pancreatitis.

Endocrinology And Metabolism Clinics Of North America
Sahin-Tóth, Miklós M
Publication Date: 2006-06

Variant appearance in text: PRSS1: D22G
PubMed Link: 16632094
Variant Present in the following documents:
  • Main text
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A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene.

World Journal Of Gastroenterology
Pho-Iam, Theeraphong T; Thongnoppakhun, Wanna W; Yenchitsomanus, Pa-Thai PT; Limwongse, Chanin C
Publication Date: 2005-03-21

Variant appearance in text: PRSS1: D22G
PubMed Link: 15786540
Variant Present in the following documents:
  • Main text
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Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.

Gut
Chandak, G R GR; Idris, M M MM; Reddy, D N DN; Mani, K R KR; Bhaskar, S S; Rao, G V GV; Singh, L L
Publication Date: 2004-05

Variant appearance in text: PRSS1: D22G
PubMed Link: 15082592
Variant Present in the following documents:
  • Main text
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A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations.

Bmc Gastroenterology
Felderbauer, Peter P; Hoffmann, Peter P; Einwächter, Henrik H; Bulut, Kerem K; Ansorge, Nikolaus N; Schmitz, Frank F; Schmidt, Wolfgang E WE
Publication Date: 2003-11-29

Variant appearance in text: PRSS1: D22G
PubMed Link: 14641934
Variant Present in the following documents:
  • Main text
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Cathepsin B cleavage of the trypsinogen activation peptide.

Bmc Gastroenterology
Teich, Niels N; Bödeker, Hans H; Keim, Volker V
Publication Date: 2002-06-27

Variant appearance in text: PRSS1: D22G
PubMed Link: 12102727
Variant Present in the following documents:
  • 1471-230X-2-16.pdf
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The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.

Gut
Threadgold, J J; Greenhalf, W W; Ellis, I I; Howes, N N; Lerch, M M MM; Simon, P P; Jansen, J J; Charnley, R R; Laugier, R R; Frulloni, L L; Oláh, A A; Delhaye, M M; Ihse, I I; Schaffalitzky de Muckadell, O B OB; Andrén-Sandberg, A A; Imrie, C W CW; Martinek, J J; Gress, T M TM; Mountford, R R; Whitcomb, D D; Neoptolemos, J P JP
Publication Date: 2002-05

Variant appearance in text: PRSS1: D22G
PubMed Link: 11950815
Variant Present in the following documents:
  • Main text
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Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.

Gut
Pfützer, R R; Myers, E E; Applebaum-Shapiro, S S; Finch, R R; Ellis, I I; Neoptolemos, J J; Kant, J A JA; Whitcomb, D C DC
Publication Date: 2002-02

Variant appearance in text: PRSS1: D22G
PubMed Link: 11788572
Variant Present in the following documents:
  • Main text
View BVdb publication page