KLKB1 c.428G>C ;(p.S143T)

Variant ID: 4-187158034-G-C

NM_000892.3(KLKB1):c.428G>C;(p.S143T)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs3733402
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3733402
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Bioinformatics And Biology Insights
Noel, Dago Dougba DD; Marinella, Pinelli P; Mauro, Giacomelli G; Tripodi, Serena Ilaria SI; Pin, Alessia A; Serena, Arrigo A; Matteo, Bramuzzo B; Giuseppe, Fuoti Maurizio FM; Patrizia, Alvisi A; Stefano, Calza C; Tommasini, Alberto A; Raffaele, Badolato B
Publication Date: 2021

Variant appearance in text: rs3733402
PubMed Link: 35002226
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kallikrein augments the anticoagulant function of the protein C system in thrombin generation.

Journal Of Thrombosis And Haemostasis : Jth
Wan, Jun J; Vadaq, Nadira N; Konings, Joke J; Jaeger, Martin M; Kumar, Vinod V; de Laat, Bas B; Joosten, Leo L; Netea, Mihai G MG; van der Ven, Andre J AJ; de Groot, Philip G PG; de Mast, Quirijn Q; Roest, Mark M
Publication Date: 2022-01

Variant appearance in text: rs3733402
PubMed Link: 34532976
Variant Present in the following documents:
  • Main text
  • JTH-20-48.pdf
View BVdb publication page



The Genetics of Hereditary Angioedema: A Review.

Journal Of Clinical Medicine
Santacroce, Rosa R; D'Andrea, Giovanna G; Maffione, Angela Bruna AB; Margaglione, Maurizio M; d'Apolito, Maria M
Publication Date: 2021-05-09

Variant appearance in text: rs3733402
PubMed Link: 34065094
Variant Present in the following documents:
  • Main text
  • jcm-10-02023.pdf
View BVdb publication page



The Evolving Story in the Genetic Analysis for Heart Failure.

Frontiers In Cardiovascular Medicine
Miyazawa, Kazuo K; Ito, Kaoru K
Publication Date: 2021

Variant appearance in text: rs3733402
PubMed Link: 33928132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biomarkers in Hereditary Angioedema.

Clinical Reviews In Allergy & Immunology
Porebski, Grzegorz G; Kwitniewski, Mateusz M; Reshef, Avner A
Publication Date: 2021-06

Variant appearance in text: rs3733402
PubMed Link: 33560480
Variant Present in the following documents:
  • Main text
  • 12016_2021_Article_8845.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs3733402
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Profile of genetic variations in severely calcified carotid plaques by whole-exome sequencing.

Surgical Neurology International
Katano, Hiroyuki H; Nishikawa, Yusuke Y; Yamada, Hiroshi H; Iwata, Takashi T; Mase, Mitsuhito M
Publication Date: 2020

Variant appearance in text: rs3733402
PubMed Link: 33033648
Variant Present in the following documents:
  • Main text
  • SNI-11-286.pdf
View BVdb publication page



Longitudinal Plasma Kallikrein Levels and Their Association With the Risk of Cardiovascular Disease Outcomes in Type 1 Diabetes in DCCT/EDIC.

Diabetes
Jaffa, Miran A MA; Bebu, Ionut I; Luttrell, Deirdre D; Braffett, Barbara H BH; Lachin, John M JM; Hunt, Kelly K; Lopes-Virella, Maria M; Luttrell, Louis L; Lyons, Timothy J TJ; Jaffa, Ayad A AA; ,
Publication Date: 2020-11

Variant appearance in text: rs3733402
PubMed Link: 32826295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration.

Stem Cells Translational Medicine
Petrus-Reurer, Sandra S; Kumar, Pankaj P; Padrell Sánchez, Sara S; Aronsson, Monica M; André, Helder H; Bartuma, Hammurabi H; Plaza Reyes, Alvaro A; Nandrot, Emeline F EF; Kvanta, Anders A; Lanner, Fredrik F
Publication Date: 2020-08

Variant appearance in text: rs3733402
PubMed Link: 32319201
Variant Present in the following documents:
  • SCT3-9-936-s001.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs3733402
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance.

Scientific Reports
Al-Khelaifi, Fatima F; Diboun, Ilhame I; Donati, Francesco F; Botrè, Francesco F; Abraham, David D; Hingorani, Aroon A; Albagha, Omar O; Georgakopoulos, Costas C; Suhre, Karsten K; Yousri, Noha A NA; Elrayess, Mohamed A MA
Publication Date: 2019-12-27

Variant appearance in text: rs3733402
PubMed Link: 31882771
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_56496.pdf
View BVdb publication page



Cardiac Troponin T and Troponin I in the General Population.

Circulation
Welsh, Paul P; Preiss, David D; Hayward, Caroline C; Shah, Anoop S V ASV; McAllister, David D; Briggs, Andrew A; Boachie, Charles C; McConnachie, Alex A; Padmanabhan, Sandosh S; Welsh, Claire C; Woodward, Mark M; Campbell, Archie A; Porteous, David D; Mills, Nicholas L NL; Sattar, Naveed N
Publication Date: 2019-06-11

Variant appearance in text: rs3733402
PubMed Link: 31014085
Variant Present in the following documents:
  • cir-139-2754.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: rs3733402
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports
Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM
Publication Date: 2018-07-19

Variant appearance in text: rs3733402
PubMed Link: 30026549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma Prekallikrein: Its Role in Hereditary Angioedema and Health and Disease.

Frontiers In Medicine
Schmaier, Alvin H AH
Publication Date: 2018

Variant appearance in text: rs3733402
PubMed Link: 29423395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.

Bmc Genomics
Koko, Mahmoud M; Abdallah, Mohammed O E MOE; Amin, Mutaz M; Ibrahim, Muntaser M
Publication Date: 2018-01-15

Variant appearance in text: rs3733402
PubMed Link: 29334895
Variant Present in the following documents:
  • Main text
  • 12864_2018_Article_4433.pdf
View BVdb publication page



Genome-Wide Association Study Implicates Atrial Natriuretic Peptide Rather Than B-Type Natriuretic Peptide in the Regulation of Blood Pressure in the General Population.

Circulation. Cardiovascular Genetics
Salo, Perttu P PP; Havulinna, Aki S AS; Tukiainen, Taru T; Raitakari, Olli O; Lehtimäki, Terho T; Kähönen, Mika M; Kettunen, Johannes J; Männikkö, Minna M; Eriksson, Johan G JG; Jula, Antti A; Blankenberg, Stefan S; Zeller, Tanja T; Salomaa, Veikko V; Kristiansson, Kati K; Perola, Markus M
Publication Date: 2017-12

Variant appearance in text: rs3733402
PubMed Link: 29237677
Variant Present in the following documents:
  • Main text
  • hcg-10-e001713-s001.pdf
  • hcg-10-e001713.pdf
View BVdb publication page



Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.

Human Molecular Genetics
de Vries, Paul S PS; Yu, Bing B; Feofanova, Elena V EV; Metcalf, Ginger A GA; Brown, Michael R MR; Zeighami, Atefeh L AL; Liu, Xiaoming X; Muzny, Donna M DM; Gibbs, Richard A RA; Boerwinkle, Eric E; Morrison, Alanna C AC
Publication Date: 2017-09-01

Variant appearance in text: rs3733402
PubMed Link: 28854705
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study.

Plos One
Simino, Jeannette J; Wang, Zhiying Z; Bressler, Jan J; Chouraki, Vincent V; Yang, Qiong Q; Younkin, Steven G SG; Seshadri, Sudha S; Fornage, Myriam M; Boerwinkle, Eric E; Mosley, Thomas H TH
Publication Date: 2017

Variant appearance in text: rs3733402
PubMed Link: 28704393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.

Obesity (Silver Spring, Md.)
Sabo, Aniko A; Mishra, Pamela P; Dugan-Perez, Shannon S; Voruganti, V Saroja VS; Kent, Jack W JW; Kalra, Divya D; Cole, Shelley A SA; Comuzzie, Anthony G AG; Muzny, Donna M DM; Gibbs, Richard A RA; Butte, Nancy F NF
Publication Date: 2017-07

Variant appearance in text: rs3733402
PubMed Link: 28508493
Variant Present in the following documents:
  • Main text
  • nihms866113.pdf
View BVdb publication page



Identification of novel loci affecting circulating chromogranins and related peptides.

Human Molecular Genetics
Benyamin, Beben B; Maihofer, Adam X AX; Schork, Andrew J AJ; Hamilton, Bruce A BA; Rao, Fangwen F; Schmid-Schönbein, Geert W GW; Zhang, Kuixing K; Mahata, Manjula M; Stridsberg, Mats M; Schork, Nicholas J NJ; Biswas, Nilima N; Hook, Vivian Y VY; Wei, Zhiyun Z; Montgomery, Grant W GW; Martin, Nicholas G NG; Nievergelt, Caroline M CM; Whitfield, John B JB; O'Connor, Daniel T DT
Publication Date: 2017-01-01

Variant appearance in text: rs3733402
PubMed Link: 28011710
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels.

Thrombosis And Haemostasis
Zhang, Weihua W; Jernerén, Fredrik F; Lehne, Benjamin C BC; Chen, Ming-Huei MH; Luben, Robert N RN; Johnston, Carole C; Elshorbagy, Amany A; Eppinga, Ruben N RN; Scott, William R WR; Adeyeye, Elizabeth E; Scott, James J; Böger, Rainer H RH; Khaw, Kay-Tee KT; van der Harst, Pim P; Wareham, Nicholas J NJ; Vasan, Ramachandran S RS; Chambers, John C JC; Refsum, Helga H; Kooner, Jaspal S JS
Publication Date: 2016-11-30

Variant appearance in text: rs3733402
PubMed Link: 27656708
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.

Human Molecular Genetics
Lamina, Claudia C; Friedel, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Kollerits, Barbara B; Marques-Vidal, Pedro P; Ried, Janina J; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Kiechl, Stefan S; Raitakari, Olli T OT; Kähönen, Mika M; Willeit, Johann J; Kedenko, Ludmilla L; Paulweber, Bernhard B; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Kronenberg, Florian F
Publication Date: 2016-08-15

Variant appearance in text: rs3733402
PubMed Link: 27412012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study.

Circulation. Cardiovascular Genetics
Solomon, Terry T; Smith, Erin N EN; Matsui, Hiroko H; Braekkan, Sigrid K SK; , ; Wilsgaard, Tom T; Njølstad, Inger I; Mathiesen, Ellisiv B EB; Hansen, John-Bjarne JB; Frazer, Kelly A KA
Publication Date: 2016-08

Variant appearance in text: rs3733402
PubMed Link: 27329291
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Cross-sectional Study of KLKB1 and PRCP Polymorphisms in Patient Samples with Cardiovascular Disease.

Frontiers In Medicine
Gittleman, Haley R HR; Merkulova, Alona A; Alhalabi, Omar O; Stavrou, Evi X EX; Veigl, Martina L ML; Barnholtz-Sloan, Jill S JS; Schmaier, Alvin H AH
Publication Date: 2016

Variant appearance in text: rs3733402
PubMed Link: 27200353
Variant Present in the following documents:
  • Main text
  • fmed-03-00017.pdf
View BVdb publication page



Polymorphisms at the F12 and KLKB1 loci have significant trait association with activation of the renin-angiotensin system.

Bmc Medical Genetics
Biswas, Nilima N; Maihofer, Adam X AX; Mir, Saiful Anam SA; Rao, Fangwen F; Zhang, Kuixing K; Khandrika, Srikrishna S; Mahata, Manjula M; Friese, Ryan S RS; Hightower, C Makena CM; Mahata, Sushil K SK; Baker, Dewleen G DG; Nievergelt, Caroline M CM; Vaingankar, Sucheta M SM; O'Connor, Daniel T DT
Publication Date: 2016-03-11

Variant appearance in text: rs3733402
PubMed Link: 26969407
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_283.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: rs3733402
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs3733402
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 7
  • pone.0123569.s008.xls, sheet 3
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 1
  • pone.0123569.s008.xls, sheet 2
  • pone.0123569.s008.xls, sheet 8
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 9
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs3733402
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Genome-wide association analysis of plasma B-type natriuretic peptide in blacks: the Jackson Heart Study.

Circulation. Cardiovascular Genetics
Musani, Solomon K SK; Fox, Ervin R ER; Kraja, Aldi A; Bidulescu, Aurelian A; Lieb, Wolfgang W; Lin, Honghuang H; Beecham, Ashley A; Chen, Ming-Huei MH; Felix, Janine F JF; Fox, Caroline S CS; Kao, W H Linda WH; Kardia, Sharon L R SL; Liu, Ching-Ti CT; Nalls, Mike A MA; Rundek, Tatjana T; Sacco, Ralph L RL; Smith, Jennifer J; Sun, Yan V YV; Wilson, Gregory G; Zhang, Zhaogong Z; Mosley, Thomas H TH; Taylor, Herman A HA; Vasan, Ramachandran S RS
Publication Date: 2015-02

Variant appearance in text: rs3733402
PubMed Link: 25561047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide meta-analyses of plasma renin activity and concentration reveal association with the kininogen 1 and prekallikrein genes.

Circulation. Cardiovascular Genetics
Lieb, Wolfgang W; Chen, Ming-Huei MH; Teumer, Alexander A; de Boer, Rudolf A RA; Lin, Honghuang H; Fox, Ervin R ER; Musani, Solomon K SK; Wilson, James G JG; Wang, Thomas J TJ; Völzke, Henry H; Petersen, Ann-Kristin AK; Meisinger, Christine C; Nauck, Matthias M; Schlesinger, Sabrina S; Li, Yong Y; Menard, Jöel J; Hercberg, Serge S; Wichmann, H-Erich HE; Völker, Uwe U; Rawal, Rajesh R; Bidlingmaier, Martin M; Hannemann, Anke A; Dörr, Marcus M; Rettig, Rainer R; van Gilst, Wiek H WH; van Veldhuisen, Dirk J DJ; Bakker, Stephan J L SJ; Navis, Gerjan G; Wallaschofski, Henri H; Meneton, Pierre P; van der Harst, Pim P; Reincke, Martin M; Vasan, Ramachandran S RS; , ; , ; ,
Publication Date: 2015-02

Variant appearance in text: rs3733402
PubMed Link: 25477429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants influencing human serum metabolome among African Americans.

Plos Genetics
Yu, Bing B; Zheng, Yan Y; Alexander, Danny D; Morrison, Alanna C AC; Coresh, Josef J; Boerwinkle, Eric E
Publication Date: 2014-03

Variant appearance in text: rs3733402
PubMed Link: 24625756
Variant Present in the following documents:
  • Main text
  • pgen.1004212.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs3733402
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Role of plasma kallikrein in diabetes and metabolism.

Thrombosis And Haemostasis
Feener, E P EP; Zhou, Q Q; Fickweiler, W W
Publication Date: 2013-09

Variant appearance in text: rs3733402
PubMed Link: 23676986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

Plos One
Comuzzie, Anthony G AG; Cole, Shelley A SA; Laston, Sandra L SL; Voruganti, V Saroja VS; Haack, Karin K; Gibbs, Richard A RA; Butte, Nancy F NF
Publication Date: 2012

Variant appearance in text: KLKB1: S143T; rs3733402
PubMed Link: 23251661
Variant Present in the following documents:
  • Main text
  • pone.0051954.pdf
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: rs3733402
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 2
View BVdb publication page