PRF1 c.755A>G ;(p.N252S)

Variant ID: 10-72358722-T-C

NM_001083116.1(PRF1):c.755A>G;(p.N252S)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Natural Killer Cells in Multiple Sclerosis: Entering the Stage.

Frontiers In Immunology
Beliën, Jarne J; Goris, An A; Matthys, Patrick P
Publication Date: 2022

Variant appearance in text: PRF1: N252S
PubMed Link: 35464427
Variant Present in the following documents:
  • fimmu-13-869447.pdf
View BVdb publication page



The pore conformation of lymphocyte perforin.

Science Advances
Ivanova, Marina E ME; Lukoyanova, Natalya N; Malhotra, Sony S; Topf, Maya M; Trapani, Joseph A JA; Voskoboinik, Ilia I; Saibil, Helen R HR
Publication Date: 2022-02-11

Variant appearance in text: PRF1: N252S
PubMed Link: 35148176
Variant Present in the following documents:
  • sciadv.abk3147.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: PRF1: N252S; rs28933375
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Pharmacogenomics And Personalized Medicine
Shi, Yuan Y; Qiao, Zhidong Z; Bi, Xiaoduo X; Zhang, Chenxin C; Fu, Junxian J; Jia, Yuexin Y; Yang, Guanglu G
Publication Date: 2021

Variant appearance in text: PRF1: 755A>G; Asn252Ser
PubMed Link: 34938098
Variant Present in the following documents:
  • Main text
  • pgpm-14-1637.pdf
View BVdb publication page



Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers
de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT
Publication Date: 2020-07-09

Variant appearance in text: PRF1: 755A>G; Asn252Ser; rs28933375
PubMed Link: 32659967
Variant Present in the following documents:
  • cancers-12-01848-s001.pdf
View BVdb publication page



Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.

Blood
Carvelli, Julien J; Piperoglou, Christelle C; Farnarier, Catherine C; Vely, Frédéric F; Mazodier, Karin K; Audonnet, Sandra S; Nitschke, Patrick P; Bole-Feysot, Christine C; Boucekine, Mohamed M; Cambon, Audrey A; Hamidou, Mohamed M; Harle, Jean-Robert JR; de Saint Basile, Geneviève G; Kaplanski, Gilles G
Publication Date: 2020-07-30

Variant appearance in text: PRF1: N252S
PubMed Link: 32356861
Variant Present in the following documents:
  • Main text
View BVdb publication page



Macrophage Activation Syndrome Versus Hemophagocytic Lymphohistiocytosis: A Diagnostic Dilemma in a Patient With Still's Disease and Epstein-Barr Virus Viremia.

Journal Of Hematology
Gomez, Roberta R; Maakaron, Joseph J; Baiocchi, Robert R
Publication Date: 2019-06

Variant appearance in text: PRF1: N252S
PubMed Link: 32300447
Variant Present in the following documents:
  • jh-08-068.pdf
View BVdb publication page



The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Nature Communications
Rio-Machin, Ana A; Vulliamy, Tom T; Hug, Nele N; Walne, Amanda A; Tawana, Kiran K; Cardoso, Shirleny S; Ellison, Alicia A; Pontikos, Nikolas N; Wang, Jun J; Tummala, Hemanth H; Al Seraihi, Ahad Fahad H AFH; Alnajar, Jenna J; Bewicke-Copley, Findlay F; Armes, Hannah H; Barnett, Michael M; Bloor, Adrian A; Bödör, Csaba C; Bowen, David D; Fenaux, Pierre P; Green, Andrew A; Hallahan, Andrew A; Hjorth-Hansen, Henrik H; Hossain, Upal U; Killick, Sally S; Lawson, Sarah S; Layton, Mark M; Male, Alison M AM; Marsh, Judith J; Mehta, Priyanka P; Mous, Rogier R; Nomdedéu, Josep F JF; Owen, Carolyn C; Pavlu, Jiri J; Payne, Elspeth M EM; Protheroe, Rachel E RE; Preudhomme, Claude C; Pujol-Moix, Nuria N; Renneville, Aline A; Russell, Nigel N; Saggar, Anand A; Sciuccati, Gabriela G; Taussig, David D; Toze, Cynthia L CL; Uyttebroeck, Anne A; Vandenberghe, Peter P; Schlegelberger, Brigitte B; Ripperger, Tim T; Steinemann, Doris D; Wu, John J; Mason, Joanne J; Page, Paula P; Akiki, Susanna S; Reay, Kim K; Cavenagh, Jamie D JD; Plagnol, Vincent V; Caceres, Javier F JF; Fitzgibbon, Jude J; Dokal, Inderjeet I
Publication Date: 2020-02-25

Variant appearance in text: PRF1: Asn252Ser
PubMed Link: 32098966
Variant Present in the following documents:
  • Main text
  • 41467_2020_14829_MOESM10_ESM.xlsx, sheet 1
  • 41467_2020_Article_14829.pdf
View BVdb publication page



Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open
McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D
Publication Date: 2019-10-02

Variant appearance in text: PRF1: 755A>G
PubMed Link: 31664448
Variant Present in the following documents:
  • jamanetwopen-2-e1914274-s001.pdf
View BVdb publication page



Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.

Frontiers In Immunology
Chiang, Samuel Cern Cher SCC; Bleesing, Jack J JJ; Marsh, Rebecca A RA
Publication Date: 2019

Variant appearance in text: PRF1: N252S
PubMed Link: 31396234
Variant Present in the following documents:
  • fimmu-10-01740.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: PRF1: N252S; rs28933375
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: PRF1: N252S; rs28933375
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.

Leukemia
Cross, Nicholas C P NCP; Hoade, Yvette Y; Tapper, William J WJ; Carreno-Tarragona, Gonzalo G; Fanelli, Tiziana T; Jawhar, Mohamad M; Naumann, Nicole N; Pieniak, Iwo I; Lübke, Johannes J; Ali, Sahra S; Bhuller, Kaljit K; Burgstaller, Sonja S; Cargo, Catherine C; Cavenagh, Jamie J; Duncombe, Andrew S AS; Das-Gupta, Emma E; Evans, Paul P; Forsyth, Peter P; George, Philip P; Grimley, Charlotte C; Jack, Fergus F; Munro, Laura L; Mehra, Varun V; Patel, Kavita K; Rismani, Ali A; Sciuccati, Gabriela G; Thomas-Dewing, Rowena R; Thornton, Patrick P; Virchis, Andres A; Watt, Simon S; Wallis, Louise L; Whiteway, Alastair A; Zegocki, Kris K; Bain, Barbara J BJ; Reiter, Andreas A; Chase, Andrew A
Publication Date: 2019-02

Variant appearance in text: PRF1: N252S
PubMed Link: 30573779
Variant Present in the following documents:
  • Main text
  • 41375_2018_Article_342.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: PRF1: N252S; rs28933375
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Human perforin gene variation is geographically distributed.

Molecular Genetics & Genomic Medicine
Willenbring, Robin C RC; Ikeda, Yasuhiro Y; Pease, Larry R LR; Johnson, Aaron J AJ
Publication Date: 2018-01

Variant appearance in text: PRF1: Asn252Ser
PubMed Link: 29216683
Variant Present in the following documents:
  • Main text
  • MGG3-6-44.pdf
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: PRF1: 755A>G; Asn252Ser; rs28933375
PubMed Link: 28957316
Variant Present in the following documents:
  • Main text
  • pgen.1006915.pdf
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Heterogeneous Tumor-Immune Microenvironments among Differentially Growing Metastases in an Ovarian Cancer Patient.

Cell
Jiménez-Sánchez, Alejandro A; Memon, Danish D; Pourpe, Stephane S; Veeraraghavan, Harini H; Li, Yanyun Y; Vargas, Hebert Alberto HA; Gill, Michael B MB; Park, Kay J KJ; Zivanovic, Oliver O; Konner, Jason J; Ricca, Jacob J; Zamarin, Dmitriy D; Walther, Tyler T; Aghajanian, Carol C; Wolchok, Jedd D JD; Sala, Evis E; Merghoub, Taha T; Snyder, Alexandra A; Miller, Martin L ML
Publication Date: 2017-08-24

Variant appearance in text: PRF1: N252S
PubMed Link: 28841418
Variant Present in the following documents:
  • mmc4.xls, sheet 6
View BVdb publication page



Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease.

International Journal Of Molecular Sciences
Willenbring, Robin C RC; Johnson, Aaron J AJ
Publication Date: 2017-07-25

Variant appearance in text: PRF1: N252S
PubMed Link: 28757574
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Plos One
Omoyinmi, Ebun E; Standing, Ariane A; Keylock, Annette A; Price-Kuehne, Fiona F; Melo Gomes, Sonia S; Rowczenio, Dorota D; Nanthapisal, Sira S; Cullup, Thomas T; Nyanhete, Rodney R; Ashton, Emma E; Murphy, Claire C; Clarke, Megan M; Ahlfors, Helena H; Jenkins, Lucy L; Gilmour, Kimberly K; Eleftheriou, Despina D; Lachmann, Helen J HJ; Hawkins, Philip N PN; Klein, Nigel N; Brogan, Paul A PA
Publication Date: 2017

Variant appearance in text: PRF1: N252S
PubMed Link: 28750028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PRF1: 755A>G; Asn252Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Publication Date: 2017-05-31

Variant appearance in text: PRF1: N252S
PubMed Link: 28569218
Variant Present in the following documents:
  • Main text
  • 13058_2017_Article_854.pdf
  • 13058_2017_854_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW
Publication Date: 2017-12

Variant appearance in text: PRF1: N252S; rs28933375
PubMed Link: 28471432
Variant Present in the following documents:
  • gim201750x2.xlsx, sheet 2
View BVdb publication page



Germline mutations predisposing to diffuse large B-cell lymphoma.

Blood Cancer Journal
Leeksma, O C OC; de Miranda, N F NF; Veelken, H H
Publication Date: 2017-02-17

Variant appearance in text: PRF1: 755A>G; N252S
PubMed Link: 28211887
Variant Present in the following documents:
  • Main text
View BVdb publication page



Macrophage Activation Syndrome: different mechanisms leading to a one clinical syndrome.

Pediatric Rheumatology Online Journal
Bracaglia, Claudia C; Prencipe, Giusi G; De Benedetti, Fabrizio F
Publication Date: 2017-01-17

Variant appearance in text: PRF1: N252S
PubMed Link: 28095869
Variant Present in the following documents:
  • Main text
  • 12969_2016_Article_130.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: PRF1: N252S; rs28933375
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Comparative genomic analysis of primary tumors and metastases in breast cancer.

Oncotarget
Bertucci, François F; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Garnier, Séverine S; Carbuccia, Nadine N; Monneur, Audrey A; Charafe-Jauffret, Emmanuelle E; Goncalves, Anthony A; Viens, Patrice P; Birnbaum, Daniel D; Chaffanet, Max M
Publication Date: 2016-05-10

Variant appearance in text: PRF1: N252S
PubMed Link: 27028851
Variant Present in the following documents:
  • oncotarget-07-27208-s001.pdf
View BVdb publication page



Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.

The Journal Of Allergy And Clinical Immunology
Cetica, Valentina V; Sieni, Elena E; Pende, Daniela D; Danesino, Cesare C; De Fusco, Carmen C; Locatelli, Franco F; Micalizzi, Concetta C; Putti, Maria Caterina MC; Biondi, Andrea A; Fagioli, Franca F; Moretta, Lorenzo L; Griffiths, Gillian M GM; Luzzatto, Lucio L; Aricò, Maurizio M
Publication Date: 2016-01

Variant appearance in text: PRF1: N252S
PubMed Link: 26342526
Variant Present in the following documents:
  • Main text
  • main.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: PRF1: N252S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: PRF1: N252S; rs28933375
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09

Variant appearance in text: PRF1: N252S
PubMed Link: 25188385
Variant Present in the following documents:
  • pcbi.1003825.s014.xlsx, sheet 1
View BVdb publication page



Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.

Frontiers In Immunology
Sieni, Elena E; Cetica, Valentina V; Hackmann, Yvonne Y; Coniglio, Maria Luisa ML; Da Ros, Martina M; Ciambotti, Benedetta B; Pende, Daniela D; Griffiths, Gillian G; Aricò, Maurizio M
Publication Date: 2014

Variant appearance in text: PRF1: N252S
PubMed Link: 24795715
Variant Present in the following documents:
  • Main text
  • fimmu-05-00167.pdf
View BVdb publication page



Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function.

Frontiers In Immunology
Voskoboinik, Ilia I; Trapani, Joseph A JA
Publication Date: 2013-12-12

Variant appearance in text: PRF1: N252S
PubMed Link: 24376445
Variant Present in the following documents:
  • fimmu-04-00441.pdf
View BVdb publication page



Human perforin mutations and susceptibility to multiple primary cancers.

Oncoimmunology
Trapani, Joseph A JA; Thia, Kevin Y T KY; Andrews, Miles M; Davis, Ian D ID; Gedye, Craig C; Parente, Philip P; Svobodova, Suzanne S; Chia, Jenny J; Browne, Kylie K; Campbell, Ian G IG; Phillips, Wayne A WA; Voskoboinik, Ilia I; Cebon, Jonathan S JS
Publication Date: 2013-04-01

Variant appearance in text: PRF1: N252S
PubMed Link: 23734337
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human NK cell lytic granules and regulation of their exocytosis.

Frontiers In Immunology
Krzewski, Konrad K; Coligan, John E JE
Publication Date: 2012

Variant appearance in text: PRF1: N252S
PubMed Link: 23162553
Variant Present in the following documents:
  • fimmu-03-00335.pdf
View BVdb publication page



Perforin and hematological cancer.

Revista Brasileira De Hematologia E Hemoterapia
Covas, Dimas Tadeu DT
Publication Date: 2011

Variant appearance in text: PRF1: N252S
PubMed Link: 23049312
Variant Present in the following documents:
  • Main text
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: PRF1: N252S; rs28933375
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 2
View BVdb publication page



Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

The Journal Of Clinical Investigation
Risma, Kimberly A KA; Frayer, Robert W RW; Filipovich, Alexandra H AH; Sumegi, Janos J
Publication Date: 2006-01

Variant appearance in text: PRF1: N252S
PubMed Link: 16374518
Variant Present in the following documents:
  • Main text
View BVdb publication page