PROCR c.323-20C>T

Variant ID: 20-33763951-C-T

NM_006404.4(PROCR):c.323-20C>T

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2069952
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs2069952
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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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: rs2069952
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Molecular mechanisms of endothelial dysfunction in Kawasaki-disease-associated vasculitis.

Frontiers In Cardiovascular Medicine
Qiu, Yu Y; Zhang, Yulin Y; Li, Yifei Y; Hua, Yimin Y; Zhang, Yue Y
Publication Date: 2022

Variant appearance in text: rs2069952
PubMed Link: 36003919
Variant Present in the following documents:
  • Main text
  • fcvm-09-981010.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: PROCR: 323-20C>T; rs2069952
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2069952
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs2069952
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis.

Journal Of Cellular And Molecular Medicine
Yue, Yongjian Y; Liu, Shengguo S; Han, Xuemei X; Xiao, Lu L; Huang, Qijun Q; Li, Shulin S; Zhuang, Kaixue K; Yang, Mo M; Zou, Chang C; Fu, Yingyun Y
Publication Date: 2019-10

Variant appearance in text: rs2069952
PubMed Link: 31338992
Variant Present in the following documents:
  • JCMM-23-7099-s001.xlsx, sheet 1
View BVdb publication page



Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.

Plos One
Cole, John W JW; Xu, Huichun H; Ryan, Kathleen K; Jaworek, Thomas T; Dueker, Nicole N; McArdle, Patrick P; Gaynor, Brady B; Cheng, Yu-Ching YC; O'Connell, Jeffrey J; Bevan, Steve S; Malik, Rainer R; Ahmed, Naveed Uddin NU; Amouyel, Philippe P; Anjum, Sheraz S; Bis, Joshua C JC; Crosslin, David D; Danesh, John J; Engelter, Stefan T ST; Fornage, Myriam M; Frossard, Philippe P; Gieger, Christian C; Giese, Anne-Katrin AK; Grond-Ginsbach, Caspar C; Ho, Weang Kee WK; Holliday, Elizabeth E; Hopewell, Jemma J; Hussain, M M; Iqbal, W W; Jabeen, S S; Jannes, Jim J; Kamal, Ayeesha A; Kamatani, Yoichiro Y; Kanse, Sandip S; Kloss, Manja M; Lathrop, Mark M; Leys, Didier D; Lindgren, Arne A; Longstreth, W T WT; Mahmood, Khalid K; Meisinger, Christa C; Metso, Tiina M TM; Mosley, Thomas T; Müller-Nurasyid, Martina M; Norrving, Bo B; Parati, Eugenio E; Peters, Annette A; Pezzini, Alessandro A; Quereshi, I I; Rasheed, Asif A; Rauf, A A; Salam, T T; Shen, Jess J; Słowik, Agnieszka A; Stanne, Tara T; Strauch, Konstantin K; Tatlisumak, Turgut T; Thijs, Vincent N VN; Tiedt, Steffen S; Traylor, Matthew M; Waldenberger, Melanie M; Walters, Matthew M; Zhao, Wei W; Boncoraglio, Giorgio G; Debette, Stéphanie S; Jern, Christina C; Levi, Christopher C; Markus, Hugh H; Meschia, James J; Rolfs, Arndt A; Rothwell, Peter P; Saleheen, Danish D; Seshadri, Sudha S; Sharma, Pankaj P; Sudlow, Cathie C; Worrall, Bradford B; , ; , ; Stine, O Colin OC; Kittner, Steven J SJ; Mitchell, Braxton D BD
Publication Date: 2018

Variant appearance in text: rs2069952
PubMed Link: 30383853
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: PROCR: 323-20C>T; rs2069952
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.

Journal Of Thrombosis And Haemostasis : Jth
de Haan, H G HG; van Hylckama Vlieg, A A; Lotta, L A LA; Gorski, M M MM; Bucciarelli, P P; Martinelli, I I; Baglin, T P TP; Peyvandi, F F; Rosendaal, F R FR; ,
Publication Date: 2018-12

Variant appearance in text: rs2069952
PubMed Link: 30168256
Variant Present in the following documents:
  • NIHMS1021906-supplement-1.pdf
View BVdb publication page



The H3 Haplotype of the EPCR Gene Determines High sEPCR Levels in Critically Ill Septic Patients.

Infectious Diseases And Therapy
Vassiliou, Alice G AG; Kotanidou, Anastasia A; Mastora, Zafeiria Z; Tascini, Carlo C; Cardinali, Gianluigi G; Orfanos, Stylianos E SE
Publication Date: 2018-03

Variant appearance in text: rs2069952
PubMed Link: 29549653
Variant Present in the following documents:
  • Main text
  • 40121_2018_Article_193.pdf
View BVdb publication page



Risk prediction of developing venous thrombosis in combined oral contraceptive users.

Plos One
McDaid, Aaron A; Logette, Emmanuelle E; Buchillier, Valérie V; Muriset, Maude M; Suchon, Pierre P; Pache, Thierry Daniel TD; Tanackovic, Goranka G; Kutalik, Zoltán Z; Michaud, Joëlle J
Publication Date: 2017

Variant appearance in text: rs2069952
PubMed Link: 28750087
Variant Present in the following documents:
  • Main text
  • pone.0182041.pdf
View BVdb publication page



Association of common genetic variation in the protein C pathway genes with clinical outcomes in acute respiratory distress syndrome.

Critical Care (London, England)
Sapru, Anil A; Liu, Kathleen D KD; Wiemels, Joseph J; Hansen, Helen H; Pawlikowska, Ludmilla L; Poon, Annie A; Jorgenson, Eric E; Witte, John S JS; Calfee, Carolyn S CS; Ware, Lorraine B LB; Matthay, Michael A MA; ,
Publication Date: 2016-05-23

Variant appearance in text: rs2069952
PubMed Link: 27215212
Variant Present in the following documents:
  • Main text
  • 13054_2016_Article_1330.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2069952
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Endothelial protein C receptor gene variants not associated with severe malaria in ghanaian children.

Plos One
Schuldt, Kathrin K; Ehmen, Christa C; Evans, Jennifer J; May, Juergen J; Ansong, Daniel D; Sievertsen, Juergen J; Muntau, Birgit B; Ruge, Gerd G; Agbenyega, Tsiri T; Horstmann, Rolf D RD
Publication Date: 2014

Variant appearance in text: rs2069952
PubMed Link: 25541704
Variant Present in the following documents:
  • Main text
  • pone.0115770.pdf
View BVdb publication page



Single nucleotide variants in the protein C pathway and mortality in dialysis patients.

Plos One
Ocak, Gürbey G; Drechsler, Christiane C; Vossen, Carla Y CY; Vos, Hans L HL; Rosendaal, Frits R FR; Reitsma, Pieter H PH; Hoffmann, Michael M MM; März, Winfried W; Ouwehand, Willem H WH; Krediet, Raymond T RT; Boeschoten, Elisabeth W EW; Dekker, Friedo W FW; Wanner, Christoph C; Verduijn, Marion M
Publication Date: 2014

Variant appearance in text: rs2069952
PubMed Link: 24816905
Variant Present in the following documents:
  • Main text
  • pone.0097251.pdf
View BVdb publication page



The Effects of Endothelial Protein C Receptor Gene Polymorphisms on the Plasma sEPCR Level in Venous Thrombosis Patients.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Karabıyık, Afife A; Yılmaz, Erkan E; Eğin, Yonca Y; Akar, Nejat N
Publication Date: 2012-03

Variant appearance in text: rs2069952
PubMed Link: 24744624
Variant Present in the following documents:
  • Main text
View BVdb publication page



Endothelial protein C receptor polymorphisms and risk of severe sepsis in critically ill patients.

Intensive Care Medicine
Vassiliou, Alice G AG; Maniatis, Nikolaos A NA; Kotanidou, Anastasia A; Kallergi, Marina M; Karystinaki, Foteini S FS; Letsiou, Eleftheria E; Glynos, Constantinos C; Kopterides, Petros P; Vassiliadi, Dimitra D; Nikitas, Nikitas N; Dimopoulou, Ioanna I; Armaganidis, Apostolos A; Orfanos, Stylianos E SE
Publication Date: 2013-10

Variant appearance in text: rs2069952
PubMed Link: 23881209
Variant Present in the following documents:
  • Main text
  • 134_2013_Article_3018.pdf
View BVdb publication page