PRKCQ c.1846C>A ;(p.R616=)

Variant ID: 10-6472891-G-T

NM_006257.3(PRKCQ):c.1846C>A;(p.R616=)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: PRKCQ: R616R; rs11258747
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: PRKCQ: R616R; rs11258747
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
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: PRKCQ: 1846C>A; R616R; rs11258747
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



PRKCQ rs4750316 is associated with Vogt-Koyanagi-Harada syndrome in a Han Chinese population.

Molecular Vision
Xu, Lei L; Zhao, Tingting T; Yuan, Gangxiang G; Hou, Shengping S; Zeng, Wenxin W; Chen, Feilan F
Publication Date: 2019

Variant appearance in text: rs11258747
PubMed Link: 31908401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.

Diabetologia
Claessens, Laura A LA; Wesselius, Joris J; van Lummel, Menno M; Laban, Sandra S; Mulder, Flip F; Mul, Dick D; Nikolic, Tanja T; Aanstoot, Henk-Jan HJ; Koeleman, Bobby P C BPC; Roep, Bart O BO
Publication Date: 2020-02

Variant appearance in text: rs11258747
PubMed Link: 31754749
Variant Present in the following documents:
  • 125_2019_Article_5032.pdf
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: PRKCQ: R616R; rs11258747
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

Diabetes Care
Cousminer, Diana L DL; Ahlqvist, Emma E; Mishra, Rajashree R; Andersen, Mette K MK; Chesi, Alessandra A; Hawa, Mohammad I MI; Davis, Asa A; Hodge, Kenyaita M KM; Bradfield, Jonathan P JP; Zhou, Kaixin K; Guy, Vanessa C VC; Åkerlund, Mikael M; Wod, Mette M; Fritsche, Lars G LG; Vestergaard, Henrik H; Snyder, James J; Højlund, Kurt K; Linneberg, Allan A; Käräjämäki, Annemari A; Brandslund, Ivan I; Kim, Cecilia E CE; Witte, Daniel D; Sørgjerd, Elin Pettersen EP; Brillon, David J DJ; Pedersen, Oluf O; Beck-Nielsen, Henning H; Grarup, Niels N; Pratley, Richard E RE; Rickels, Michael R MR; Vella, Adrian A; Ovalle, Fernando F; Melander, Olle O; Harris, Ronald I RI; Varvel, Stephen S; Grill, Valdemar E R VER; , ; Hakonarson, Hakon H; Froguel, Philippe P; Lonsdale, John T JT; Mauricio, Didac D; Schloot, Nanette C NC; Khunti, Kamlesh K; Greenbaum, Carla J CJ; Åsvold, Bjørn Olav BO; Yderstræde, Knud B KB; Pearson, Ewan R ER; Schwartz, Stanley S; Voight, Benjamin F BF; Hansen, Torben T; Tuomi, Tiinamaija T; Boehm, Bernhard O BO; Groop, Leif L; Leslie, R David RD; Grant, Struan F A SFA
Publication Date: 2018-11

Variant appearance in text: rs11258747
PubMed Link: 30254083
Variant Present in the following documents:
  • Main text
  • dc181032.pdf
View BVdb publication page



Identifying noncoding risk variants using disease-relevant gene regulatory networks.

Nature Communications
Gao, Long L; Uzun, Yasin Y; Gao, Peng P; He, Bing B; Ma, Xiaoke X; Wang, Jiahui J; Han, Shizhong S; Tan, Kai K
Publication Date: 2018-02-16

Variant appearance in text: rs11258747
PubMed Link: 29453388
Variant Present in the following documents:
  • 41467_2018_Article_3133.pdf
View BVdb publication page



HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes.

Plos One
Parkkola, Anna A; Laine, Antti-Pekka AP; Karhunen, Markku M; Härkönen, Taina T; Ryhänen, Samppa J SJ; Ilonen, Jorma J; Knip, Mikael M; ,
Publication Date: 2017

Variant appearance in text: rs11258747
PubMed Link: 29182645
Variant Present in the following documents:
  • Main text
View BVdb publication page



Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes.

Frontiers In Endocrinology
Wallet, Mark A MA; Santostefano, Katherine E KE; Terada, Naohiro N; Brusko, Todd M TM
Publication Date: 2017

Variant appearance in text: rs11258747
PubMed Link: 29093700
Variant Present in the following documents:
  • Main text
  • fendo-08-00276.pdf
View BVdb publication page



Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility.

Journal Of Immunology (Baltimore, Md. : 1950)
Ram, Ramesh R; Mehta, Munish M; Nguyen, Quang T QT; Larma, Irma I; Boehm, Bernhard O BO; Pociot, Flemming F; Concannon, Patrick P; Morahan, Grant G
Publication Date: 2016-04-01

Variant appearance in text: rs11258747
PubMed Link: 26912320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.

Journal Of Diabetes Research
Brorsson, Caroline A CA; Nielsen, Lotte B LB; Andersen, Marie Louise ML; Kaur, Simranjeet S; Bergholdt, Regine R; Hansen, Lars L; Mortensen, Henrik B HB; Pociot, Flemming F; Størling, Joachim J; ,
Publication Date: 2016

Variant appearance in text: rs11258747
PubMed Link: 26904692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variation in the REL Gene Increases Risk of Behcet's Disease in a Chinese Han Population but That of PRKCQ Does Not.

Plos One
Chen, Feilan F; Xu, Lei L; Zhao, Tingting T; Xiao, Xiang X; Pan, Yongquan Y; Hou, Shengping S
Publication Date: 2016

Variant appearance in text: rs11258747
PubMed Link: 26784953
Variant Present in the following documents:
  • Main text
  • pone.0147350.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: PRKCQ: R616R; rs11258747
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study.

Diabetes
Törn, Carina C; Hadley, David D; Lee, Hye-Seung HS; Hagopian, William W; Lernmark, Åke Å; Simell, Olli O; Rewers, Marian M; Ziegler, Anette A; Schatz, Desmond D; Akolkar, Beena B; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Toppari, Jorma J; Mykkänen, Juha J; Ilonen, Jorma J; Rich, Stephen S SS; She, Jin-Xiong JX; Steck, Andrea K AK; Krischer, Jeffrey J; ,
Publication Date: 2015-05

Variant appearance in text: rs11258747
PubMed Link: 25422107
Variant Present in the following documents:
  • Main text
  • db141497.pdf
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: PRKCQ: R616R; rs11258747
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page



Complex multi-block analysis identifies new immunologic and genetic disease progression patterns associated with the residual β-cell function 1 year after diagnosis of type 1 diabetes.

Plos One
Andersen, Marie Louise Max ML; Rasmussen, Morten Arendt MA; Pörksen, Sven S; Svensson, Jannet J; Vikre-Jørgensen, Jennifer J; Thomsen, Jane J; Hertel, Niels Thomas NT; Johannesen, Jesper J; Pociot, Flemming F; Petersen, Jacob Sten JS; Hansen, Lars L; Mortensen, Henrik Bindesbøl HB; Nielsen, Lotte Brøndum LB
Publication Date: 2013

Variant appearance in text: rs11258747
PubMed Link: 23755131
Variant Present in the following documents:
  • Main text
  • pone.0064632.pdf
View BVdb publication page



A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

Plos Genetics
Bradfield, Jonathan P JP; Qu, Hui-Qi HQ; Wang, Kai K; Zhang, Haitao H; Sleiman, Patrick M PM; Kim, Cecilia E CE; Mentch, Frank D FD; Qiu, Haijun H; Glessner, Joseph T JT; Thomas, Kelly A KA; Frackelton, Edward C EC; Chiavacci, Rosetta M RM; Imielinski, Marcin M; Monos, Dimitri S DS; Pandey, Rahul R; Bakay, Marina M; Grant, Struan F A SF; Polychronakos, Constantin C; Hakonarson, Hakon H
Publication Date: 2011-09

Variant appearance in text: rs11258747
PubMed Link: 21980299
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pervasive sharing of genetic effects in autoimmune disease.

Plos Genetics
Cotsapas, Chris C; Voight, Benjamin F BF; Rossin, Elizabeth E; Lage, Kasper K; Neale, Benjamin M BM; Wallace, Chris C; Abecasis, Gonçalo R GR; Barrett, Jeffrey C JC; Behrens, Timothy T; Cho, Judy J; De Jager, Philip L PL; Elder, James T JT; Graham, Robert R RR; Gregersen, Peter P; Klareskog, Lars L; Siminovitch, Katherine A KA; van Heel, David A DA; Wijmenga, Cisca C; Worthington, Jane J; Todd, John A JA; Hafler, David A DA; Rich, Stephen S SS; Daly, Mark J MJ; ,
Publication Date: 2011-08

Variant appearance in text: rs11258747
PubMed Link: 21852963
Variant Present in the following documents:
  • Main text
  • pgen.1002254.pdf
View BVdb publication page



Genetics of type 1 diabetes: what's next?

Diabetes
Pociot, Flemming F; Akolkar, Beena B; Concannon, Patrick P; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nierras, Concepcion R CR; Todd, John A JA; Rich, Stephen S SS; Nerup, Jørn J
Publication Date: 2010-07

Variant appearance in text: rs11258747
PubMed Link: 20587799
Variant Present in the following documents:
  • Main text
  • zdb1561.pdf
View BVdb publication page



Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Nature Genetics
Barrett, Jeffrey C JC; Clayton, David G DG; Concannon, Patrick P; Akolkar, Beena B; Cooper, Jason D JD; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nerup, Jørn J; Nierras, Concepcion C; Plagnol, Vincent V; Pociot, Flemming F; Schuilenburg, Helen H; Smyth, Deborah J DJ; Stevens, Helen H; Todd, John A JA; Walker, Neil M NM; Rich, Stephen S SS; ,
Publication Date: 2009-06

Variant appearance in text: rs11258747
PubMed Link: 19430480
Variant Present in the following documents:
  • Main text
View BVdb publication page