Variant ID: 7-142458430-A-G

NM_002769.4(PRSS1):c.65A>G;(p.Asp22Gly)

This variant was identified in 45 publications




Publications:


Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Genes
K Wertheim-Tysarowska, G Oracz, AM Rygiel
Publication Date: 2021-05-20

Variant appearance in text: PRSS1: Asp22Gly
PubMed Link: 34065437
Variant Present in the following documents:
  • Main text
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Hereditary pancreatitis model by blastocyst complementation in mouse.

Oncotarget
A Asai, M Konno, K Kawamoto, A Isotani, M Mori, H Eguchi, Y Doki, T Arai, H Ishii
Publication Date: 2020-06-02

Variant appearance in text: PRSS1: D22G
PubMed Link: 32547704
Variant Present in the following documents:
  • oncotarget-11-2061.pdf
  • Main text
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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
K Na, JC Hernandez-Prera, JY Lim, HY Woo, SO Yoon
Publication Date: 2020-04

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

Visceral Medicine
FU Weiss, F Laemmerhirt, MM Lerch
Publication Date: 2019-04

Variant appearance in text: PRSS1: D22G
PubMed Link: 31192240
Variant Present in the following documents:
  • Main text
  • vis-0035-0073.pdf
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Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.

Frontiers In Genetics
Z Jancsó, G Oracz, AA Kujko, E Kolodziejczyk, ES Radisky, AM Rygiel, M Sahin-Tóth
Publication Date: 2019

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

Gastroenterology
J Mayerle, M Sendler, E Hegyi, G Beyer, MM Lerch, M Sahin-Tóth
Publication Date: 2019-05

Variant appearance in text: PRSS1: D22G
PubMed Link: 30660731
Variant Present in the following documents:
  • NIHMS1060474-supplement-Supplementary_Table_1.pdf
  • Main text
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A preclinical model of chronic pancreatitis driven by trypsinogen autoactivation.

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

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

Current Genomics
N Sikdar, G Saha, A Dutta, S Ghosh, SV Shrikhande, S Banerjee
Publication Date: 2018-09

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

Nature Communications
A Bezawork-Geleta, H Wen, L Dong, B Yan, J Vider, S Boukalova, L Krobova, K Vanova, R Zobalova, M Sobol, P Hozak, SM Novais, V Caisova, P Abaffy, R Naraine, Y Pang, T Zaw, P Zhang, R Sindelka, M Kubista, S Zuryn, MP Molloy, MV Berridge, K Pacak, J Rohlena, S Park, J Neuzil
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
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Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Current Opinion In Gastroenterology
M Sahin-Tóth
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
E Hegyi, M Sahin-Tóth
Publication Date: 2017-07

Variant appearance in text: PRSS1: D22G
PubMed Link: 28536777
Variant Present in the following documents:
  • Main text
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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
A Balázs, P Hegyi, M Sahin-Tóth
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
K Lin, F Gao, Q Chen, Q Liu, S Chen
Publication Date: 2015

Variant appearance in text: PRSS1: D22G
PubMed Link: 26228362
Variant Present in the following documents:
  • Main text
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Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.

Bmc Gastroenterology
D Koziel, S Gluszek, A Kowalik, M Chlopek, L Pieciak
Publication Date: 2015-06-23

Variant appearance in text: PRSS1: D22G
PubMed Link: 26100556
Variant Present in the following documents:
  • Main text
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Pancreatic cancer risk in hereditary pancreatitis.

Frontiers In Physiology
FU Weiss
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
BC Németh, M Sahin-Tóth
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
AK Rustgi
Publication Date: 2014-01-01

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

World Journal Of Gastroenterology
C Brock, LM Nielsen, D Lelic, AM Drewes
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
A Geisz, P Hegyi, M Sahin-Tóth
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
MR Patel, AL Eppolito, FF Willingham
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
A Schnúr, S Beer, H Witt, P Hegyi, M Sahin-Tóth
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
M Ohmuraya, A Sugano, M Hirota, Y Takaoka, K Yamamura
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
A Szabó, M Sahin-Tóth
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
J Rosendahl, A Tönjes, D Schleinitz, P Kovacs, J Wiegand, C Ruffert, M Jesinghaus, R Schober, M Herms, R Grützmann, HU Schulz, F Stickel, J Werner, P Bugert, M Blüher, M Stumvoll, S Böhm, T Berg, H Wittenburg, J Mössner, R te Morsche, M Derikx, V Keim, H Witt, JP Drenth
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
MZ da Costa, DR Guarita, SK Ono-Nita, DC Paranaguá-Vezozzo, GE Felga, MR Pedroso, MM de Souza, PD Nasser, Cda S Ferreira, FJ Carrilho
Publication Date: 2011-07

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

Pancreas
MT Joergensen, A Geisz, K Brusgaard, OB Schaffalitzky de Muckadell, P Hegyi, AM Gerdes, M Sahin-Tóth
Publication Date: 2011-05

Variant appearance in text: PRSS1: D22G
PubMed Link: 21499207
Variant Present in the following documents:
  • Main text
  • NIHMS280563-supplement-1.pdf
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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
A Gasiorowska, R Talar-Wojnarowska, L Czupryniak, B Smolarz, H Romanowicz-Makowska, A Kulig, E Malecka-Panas
Publication Date: 2011-03

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

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

Variant appearance in text: PRSS1: 65A>G; D22G
PubMed Link: 20452997
Variant Present in the following documents:
  • NIHMS227069-supplement-S2.doc
  • NIHMS227069-supplement-S1.pdf
  • Main text
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Human trypsinogens in the pancreas and in cancer.

Scandinavian Journal Of Clinical And Laboratory Investigation
O Itkonen
Publication Date: 2010-04

Variant appearance in text: PRSS1: Asp22Gly
PubMed Link: 20163205
Variant Present in the following documents:
  • Supplemental file
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Intracellular autoactivation of human cationic trypsinogen mutants causes reduced trypsinogen secretion and acinar cell death.

The Journal Of Biological Chemistry
E Kereszturi, M Sahin-Tóth
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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The natural history of hereditary pancreatitis: a national series.

Gut
V Rebours, MC Boutron-Ruault, M Schnee, C Férec, C Le Maréchal, O Hentic, F Maire, P Hammel, P Ruszniewski, P Lévy
Publication Date: 2009-01

Variant appearance in text: PRSS1: D22G
PubMed Link: 18755888
Variant Present in the following documents:
  • Supplemental file
  • Main text
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Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

European Journal Of Human Genetics : Ejhg
A Boulling, C Le Maréchal, P Trouvé, O Raguénès, JM Chen, C Férec
Publication Date: 2007-09

Variant appearance in text: PRSS1: D22G
PubMed Link: 17568390
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Hereditary chronic pancreatitis.

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

Variant appearance in text: PRSS1: D22G
PubMed Link: 17204147
Variant Present in the following documents:
  • Main text
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Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

European Journal Of Human Genetics : Ejhg
E Masson, C Le Maréchal, JM Chen, T Frebourg, E Lerebours, C Férec
Publication Date: 2006-11

Variant appearance in text: PRSS1: D22G
PubMed Link: 16823394
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Human Mutation
N Teich, J Rosendahl, M Tóth, J Mössner, M Sahin-Tóth
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
M Sahin-Tóth
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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Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen.

The Journal Of Biological Chemistry
Z Nemoda, M Sahin-Tóth
Publication Date: 2006-04-28

Variant appearance in text: PRSS1: D22G
PubMed Link: 16505482
Variant Present in the following documents:
  • Main text
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The tetra-aspartate motif in the activation peptide of human cationic trypsinogen is essential for autoactivation control but not for enteropeptidase recognition.

The Journal Of Biological Chemistry
Z Nemoda, M Sahin-Tóth
Publication Date: 2005-08-19

Variant appearance in text: PRSS1: D22G
PubMed Link: 15970597
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
T Pho-Iam, W Thongnoppakhun, PT Yenchitsomanus, C Limwongse
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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Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.

Human Mutation
N Teich, Z Nemoda, H Köhler, W Heinritz, J Mössner, V Keim, M Sahin-Tóth
Publication Date: 2005-04

Variant appearance in text: PRSS1: D22G
PubMed Link: 15776435
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
GR Chandak, MM Idris, DN Reddy, KR Mani, S Bhaskar, GV Rao, L Singh
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
P Felderbauer, P Hoffmann, H Einwächter, K Bulut, N Ansorge, F Schmitz, WE Schmidt
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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Evolution of trypsinogen activation peptides.

Molecular Biology And Evolution
JM Chen, Z Kukor, C Le Maréchal, M Tóth, L Tsakiris, O Raguénès, C Férec, M Sahin-Tóth
Publication Date: 2003-11

Variant appearance in text: PRSS1: D22G
PubMed Link: 12832630
Variant Present in the following documents:
  • Supplemental file
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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
J Threadgold, W Greenhalf, I Ellis, N Howes, MM Lerch, P Simon, J Jansen, R Charnley, R Laugier, L Frulloni, A Oláh, M Delhaye, I Ihse, OB Schaffalitzky de Muckadell, A Andrén-Sandberg, CW Imrie, J Martinek, TM Gress, R Mountford, D Whitcomb, JP Neoptolemos
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
R Pfützer, E Myers, S Applebaum-Shapiro, R Finch, I Ellis, J Neoptolemos, JA Kant, DC Whitcomb
Publication Date: 2002-02

Variant appearance in text: PRSS1: D22G
PubMed Link: 11788572
Variant Present in the following documents:
  • Main text
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000311737.7 c.65A>G p.Asp22Gly missense_variant 2/5 -
ENST00000485223.1 n.54-50A>G - intron_variant,non_coding_transcript_variant - 1/1
ENST00000486171.1 c.65A>G p.Asp22Gly missense_variant 2/6 -
ENST00000497041.1 n.69A>G - non_coding_transcript_exon_variant 2/2 -
NM_002769.5 c.65A>G p.Asp22Gly missense_variant 2/5 -