CTRC c.217G>A ;(p.A73T)

Variant ID: 1-15767073-G-A

NM_007272.2(CTRC):c.217G>A;(p.A73T)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).

International Journal Of Molecular Sciences
Sándor, Máté M; Thiel, Franziska G FG; Schmid, Margit M; Demcsák, Alexandra A; Morales Granda, Nataly C NC; Németh, Balázs Csaba BC; Vajda, Sandor S; Hoerning, André A; Sahin-Tóth, Miklós M
Publication Date: 2022-12-07

Variant appearance in text: CTRC: A73T
PubMed Link: 36555104
Variant Present in the following documents:
  • Main text
  • ijms-23-15463.pdf
View BVdb publication page



Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications
Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK
Publication Date: 2022-11-05

Variant appearance in text: CTRC: 217G>A; Ala73Thr
PubMed Link: 36335097
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34116.pdf
View BVdb publication page



Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.

Plos One
Takáts, Amanda A; Berke, Gergő G; Gede, Noémi N; Németh, Balázs Csaba BC; Witt, Heiko H; Głuszek, Stanisław S; Rygiel, Agnieszka Magdalena AM; Hegyi, Péter P; Sahin-Tóth, Miklós M; Hegyi, Eszter E
Publication Date: 2022

Variant appearance in text: CTRC: 217G>A
PubMed Link: 35594281
Variant Present in the following documents:
  • Main text
  • pone.0268859.pdf
View BVdb publication page



Hereditary pancreatitis: An updated review in pediatrics.

World Journal Of Clinical Pediatrics
Panchoo, Arvind Vasant AV; VanNess, Grant H GH; Rivera-Rivera, Edgardo E; Laborda, Trevor J TJ
Publication Date: 2022-01-09

Variant appearance in text: CTRC: A73T
PubMed Link: 35096544
Variant Present in the following documents:
  • WJCP-11-27.pdf
View BVdb publication page



Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.

Diagnostics (Basel, Switzerland)
Suzuki, Mitsuyoshi M; Minowa, Kei K; Nakano, Satoshi S; Isayama, Hiroyuki H; Shimizu, Toshiaki T
Publication Date: 2020-12-26

Variant appearance in text: CTRC: A73T
PubMed Link: 33375361
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00031.pdf
View BVdb publication page



Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports
Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z
Publication Date: 2020-01-15

Variant appearance in text: CTRC: 217G>A; Ala73Thr
PubMed Link: 31942019
Variant Present in the following documents:
  • 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: CTRC: 217G>A; Ala73Thr; rs515726209
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 16
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: CTRC: 217G>A; Ala73Thr; rs515726209
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



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: CTRC: A73T
PubMed Link: 30660731
Variant Present in the following documents:
  • Main text
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: CTRC: A73T
PubMed Link: 28650851
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: CTRC: A73T
PubMed Link: 28536777
Variant Present in the following documents:
  • Main text
  • 10620_2017_Article_4601.pdf
View BVdb publication page



CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.

Bmc Gastroenterology
Koziel, Dorota D; Gluszek, Stanislaw S; Kowalik, Artur A; Chlopek, Malgorzata M
Publication Date: 2017-01-17

Variant appearance in text: CTRC: A73T
PubMed Link: 28095786
Variant Present in the following documents:
  • Main text
  • 12876_2016_Article_566.pdf
View BVdb publication page



Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group.

Journal Of Pediatric Gastroenterology And Nutrition
Gariepy, Cheryl E CE; Heyman, Melvin B MB; Lowe, Mark E ME; Pohl, John F JF; Werlin, Steven L SL; Wilschanski, Michael M; Barth, Bradley B; Fishman, Douglas S DS; Freedman, Steven D SD; Giefer, Matthew J MJ; Gonska, Tanja T; Himes, Ryan R; Husain, Sohail Z SZ; Morinville, Veronique D VD; Ooi, Chee Y CY; Schwarzenberg, Sarah J SJ; Troendle, David M DM; Yen, Elizabeth E; Uc, Aliye A
Publication Date: 2017-01

Variant appearance in text: CTRC: A73T
PubMed Link: 27782962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary pancreatitis: current perspectives.

Clinical And Experimental Gastroenterology
Raphael, Kara L KL; Willingham, Field F FF
Publication Date: 2016

Variant appearance in text: CTRC: A73T
PubMed Link: 27555793
Variant Present in the following documents:
  • Main text
  • ceg-9-197.pdf
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: CTRC: A73T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.

Bmc Gastroenterology
Koziel, Dorota D; Gluszek, Stanislaw S; Kowalik, Artur A; Chlopek, Malgorzata M; Pieciak, Liliana L
Publication Date: 2015-06-23

Variant appearance in text: CTRC: A73T
PubMed Link: 26100556
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.

Clinical And Translational Gastroenterology
LaRusch, Jessica J; Lozano-Leon, Antonio A; Stello, Kimberly K; Moore, Amanda A; Muddana, Venkata V; O'Connell, Michael M; Diergaarde, Brenda B; Yadav, Dhiraj D; Whitcomb, David C DC
Publication Date: 2015-01-08

Variant appearance in text: CTRC: A73T
PubMed Link: 25569187
Variant Present in the following documents:
  • Main text
  • ctg201413a.pdf
View BVdb publication page



Genetic and phenotypic heterogeneity in tropical calcific pancreatitis.

World Journal Of Gastroenterology
Paliwal, Sumit S; Bhaskar, Seema S; Chandak, Giriraj R GR
Publication Date: 2014-12-14

Variant appearance in text: CTRC: 217G>A; A73T
PubMed Link: 25516642
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of acute and chronic pancreatitis: An update.

World Journal Of Gastrointestinal Pathophysiology
Ravi Kanth, Vv V; Nageshwar Reddy, D D
Publication Date: 2014-11-15

Variant appearance in text: CTRC: 217G>A; A73T
PubMed Link: 25400986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

Bmj Open
Wang, Wei W; Sun, Xiao-Tian XT; Weng, Xiao-Ling XL; Zhou, Dai-Zhan DZ; Sun, Chang C; Xia, Tian T; Hu, Liang-Hao LH; Lai, Xiao-Wei XW; Ye, Bo B; Liu, Mu-Yun MY; Jiang, Fei F; Gao, Jun J; Bo, Lu-Min LM; Liu, Yun Y; Liao, Zhuan Z; Li, Zhao-Shen ZS
Publication Date: 2013-09-03

Variant appearance in text: CTRC: 217G>A
PubMed Link: 24002981
Variant Present in the following documents:
  • Main text
  • bmjopen-2013-003150.draft_revisions.pdf
  • bmjopen-2013-003150.pdf
View BVdb publication page



A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Plos One
Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C
Publication Date: 2013

Variant appearance in text: CTRC: A73T
PubMed Link: 23951356
Variant Present in the following documents:
  • pone.0073522.s001.xls, sheet 1
View BVdb publication page



Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Gut
Beer, Sebastian S; Zhou, Jiayi J; Szabó, András A; Keiles, Steven S; Chandak, Giriraj Ratan GR; Witt, Heiko H; Sahin-Tóth, Miklós M
Publication Date: 2013-11

Variant appearance in text: CTRC: 217G>A; A73T
PubMed Link: 22942235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Asparagine-linked glycosylation of human chymotrypsin C is required for folding and secretion but not for enzyme activity.

The Febs Journal
Bence, Melinda M; Sahin-Tóth, Miklós M
Publication Date: 2011-11

Variant appearance in text: CTRC: A73T
PubMed Link: 21920023
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chymotrypsin C mutations in chronic pancreatitis.

Journal Of Gastroenterology And Hepatology
Zhou, Jiayi J; Sahin-Tóth, Miklós M
Publication Date: 2011-08

Variant appearance in text: CTRC: 217G>A; A73T
PubMed Link: 21631589
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells.

Gut
Szmola, Richárd R; Sahin-Tóth, Miklós M
Publication Date: 2010-03

Variant appearance in text: CTRC: A73T
PubMed Link: 19951900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Nature Genetics
Rosendahl, Jonas J; Witt, Heiko H; Szmola, Richárd R; Bhatia, Eesh E; Ozsvári, Béla B; Landt, Olfert O; Schulz, Hans-Ulrich HU; Gress, Thomas M TM; Pfützer, Roland R; Löhr, Matthias M; Kovacs, Peter P; Blüher, Matthias M; Stumvoll, Michael M; Choudhuri, Gourdas G; Hegyi, Péter P; te Morsche, René H M RH; Drenth, Joost P H JP; Truninger, Kaspar K; Macek, Milan M; Puhl, Gero G; Witt, Ulrike U; Schmidt, Hartmut H; Büning, Carsten C; Ockenga, Johann J; Kage, Andreas A; Groneberg, David Alexander DA; Nickel, Renate R; Berg, Thomas T; Wiedenmann, Bertram B; Bödeker, Hans H; Keim, Volker V; Mössner, Joachim J; Teich, Niels N; Sahin-Tóth, Miklós M
Publication Date: 2008-01

Variant appearance in text: CTRC: 217G>A; A73T
PubMed Link: 18059268
Variant Present in the following documents:
  • Main text
View BVdb publication page