UQCC1 c.152G>A ;(p.R51Q)

Variant ID: 20-33971914-C-T

NM_018244.4(UQCC1):c.152G>A;(p.R51Q)

This variant was identified in 46 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: rs4911494
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.

Hgg Advances
Young, Kristin L KL; Fisher, Virginia V; Deng, Xuan X; Brody, Jennifer A JA; Graff, Misa M; Lim, Elise E; Lin, Bridget M BM; Xu, Hanfei H; Amin, Najaf N; An, Ping P; Aslibekyan, Stella S; Fohner, Alison E AE; Hidalgo, Bertha B; Lenzini, Petra P; Kraaij, Robert R; Medina-Gomez, Carolina C; Prokić, Ivana I; Rivadeneira, Fernando F; Sitlani, Colleen C; Tao, Ran R; van Rooij, Jeroen J; Zhang, Di D; Broome, Jai G JG; Buth, Erin J EJ; Heavner, Benjamin D BD; Jain, Deepti D; Smith, Albert V AV; Barnes, Kathleen K; Boorgula, Meher Preethi MP; Chavan, Sameer S; Darbar, Dawood D; De Andrade, Mariza M; Guo, Xiuqing X; Haessler, Jeffrey J; Irvin, Marguerite R MR; Kalyani, Rita R RR; Kardia, Sharon L R SLR; Kooperberg, Charles C; Kim, Wonji W; Mathias, Rasika A RA; McDonald, Merry-Lynn ML; Mitchell, Braxton D BD; Peyser, Patricia A PA; Regan, Elizabeth A EA; Redline, Susan S; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Smith, Jennifer A JA; Weiss, Scott S; Wiggins, Kerri L KL; Yanek, Lisa R LR; Arnett, Donna D; Heard-Costa, Nancy L NL; Leal, Suzanne S; Lin, Danyu D; McKnight, Barbara B; Province, Michael M; van Duijn, Cornelia M CM; North, Kari E KE; Cupples, L Adrienne LA; Liu, Ching-Ti CT
Publication Date: 2023-01-12

Variant appearance in text: rs4911494
PubMed Link: 36568030
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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: rs4911494
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
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



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: rs4911494
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications
Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K
Publication Date: 2022-02-02

Variant appearance in text: UQCC1: Arg51Gln
PubMed Link: 35110524
Variant Present in the following documents:
  • 41467_2022_28167_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications
Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K
Publication Date: 2022-02-02

Variant appearance in text: UQCC1: Arg51Gln
PubMed Link: 35110524
Variant Present in the following documents:
  • 41467_2022_28167_MOESM3_ESM.xlsx, sheet 5
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: UQCC: 152G>A; rs4911494
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: UQCC1: Arg51Gln; rs4911494
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: UQCC1: 152G>A; R51Q; rs4911494
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: UQCC1: 152G>A; R51Q; rs4911494
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: UQCC: 152G>A; rs4911494
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: UQCC1: R51Q; rs4911494
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
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: rs4911494
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: UQCC1: 152G>A; Arg51Gln
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 6
  • Supplementary_Data2.xlsx, sheet 7
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: UQCC1: R51Q; rs4911494
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications
Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y
Publication Date: 2019-09-27

Variant appearance in text: UQCC1: R51Q; rs4911494
PubMed Link: 31562340
Variant Present in the following documents:
  • 41467_2019_12276_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Regional fat depot masses are influenced by protein-coding gene variants.

Plos One
Neville, Matt J MJ; Wittemans, Laura B L LBL; Pinnick, Katherine E KE; Todorčević, Marijana M; Kaksonen, Risto R; Pietiläinen, Kirsi H KH; Luan, Jian'an J; Scott, Robert A RA; Wareham, Nicholas J NJ; Langenberg, Claudia C; Karpe, Fredrik F
Publication Date: 2019

Variant appearance in text: UQCC1: R51Q; rs4911494
PubMed Link: 31145760
Variant Present in the following documents:
  • Main text
  • pone.0217644.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: UQCC: R51Q; rs4911494
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
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: rs4911494
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Nature Genetics
Justice, Anne E AE; Karaderi, Tugce T; Highland, Heather M HM; Young, Kristin L KL; Graff, Mariaelisa M; Lu, Yingchang Y; Turcot, Valérie V; Auer, Paul L PL; Fine, Rebecca S RS; Guo, Xiuqing X; Schurmann, Claudia C; Lempradl, Adelheid A; Marouli, Eirini E; Mahajan, Anubha A; Winkler, Thomas W TW; Locke, Adam E AE; Medina-Gomez, Carolina C; Esko, Tõnu T; Vedantam, Sailaja S; Giri, Ayush A; Lo, Ken Sin KS; Alfred, Tamuno T; Mudgal, Poorva P; Ng, Maggie C Y MCY; Heard-Costa, Nancy L NL; Feitosa, Mary F MF; Manning, Alisa K AK; Willems, Sara M SM; Sivapalaratnam, Suthesh S; Abecasis, Goncalo G; Alam, Dewan S DS; Allison, Matthew M; Amouyel, Philippe P; Arzumanyan, Zorayr Z; Balkau, Beverley B; Bastarache, Lisa L; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Collins, Francis S FS; Cook, James P JP; Cox, Amanda J AJ; Crosslin, David S DS; Danesh, John J; de Bakker, Paul I W PIW; Denus, Simon de S; Mutsert, Renée de R; Dedoussis, George G; Demerath, Ellen W EW; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Dörr, Marcus M; Drenos, Fotios F; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Fornage, Myriam M; Fox, Caroline S CS; Franks, Paul W PW; Friedrich, Nele N; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Girotto, Giorgia G; Gorski, Mathias M; Grallert, Harald H; Grarup, Niels N; Grove, Megan L ML; Gustafsson, Stefan S; Haessler, Jeff J; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Heid, Iris M IM; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Hung, Yi-Jen YJ; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jarvik, Gail P GP; Jia, Yucheng Y; Jørgensen, Torben T; Jousilahti, Pekka P; Justesen, Johanne M JM; Kahali, Bratati B; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kee, Frank F; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kovacs, Peter P; Krämer, Bernhard K BK; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lee, Wen-Jane WJ; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; MacGregor, Stuart S; Mägi, Reedik R; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Masca, Nicholas G D NGD; McCarthy, Mark I MI; Meidtner, Karina K; Mihailov, Evelin E; Moilanen, Leena L; Moitry, Marie M; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Ntalla, Ioanna I; O'Connell, Jeffrey R JR; Owen, Katharine R KR; Pedersen, Oluf O; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Ewing, Ailith A; Polasek, Ozren O; Raitakari, Olli T OT; Rasheed, Asif A; Raulerson, Chelsea K CK; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Ridker, Paul M PM; Rivas, Manuel A MA; Robertson, Neil R NR; Robino, Antonietta A; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo M; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Blair H BH; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swart, Karin M A KMA; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Torres, Mina M; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vanhala, Mauno M; Varma, Rohit R; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zheng, He H; Zhou, Wei W; Zillikens, M Carola MC; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Pospisilik, J Andrew JA; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; Mohlke, Karen L KL; Rotter, Jerome I JI; Kutalik, Zoltán Z; Hirschhorn, Joel N JN; Cupples, L Adrienne LA; Loos, Ruth J F RJF; North, Kari E KE; Lindgren, Cecilia M CM; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2019-03

Variant appearance in text: UQCC1: R51Q; rs4911494
PubMed Link: 30778226
Variant Present in the following documents:
  • Main text
  • NIHMS1016010-supplement-SupplementaryData5.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData4.xlsx, sheet 1
  • NIHMS1016010-supplement-Supplementaryfig.pdf
  • NIHMS1016010-supplement-SupplementaryData16.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData6.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData14.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData17.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData11.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: UQCC: R51Q; rs4911494
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: UQCC: R51Q; rs4911494
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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: UQCC: 152G>A; rs4911494
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: UQCC1: R51Q; rs4911494
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: UQCC1: R51Q; rs4911494
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-9.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: CBP3: R51Q; rs4911494
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: UQCC: R51Q; rs4911494
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



Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Publication Date: 2015-10-13

Variant appearance in text: UQCC1: R51Q; rs4911494
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: UQCC: R51Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: UQCC: R51Q; rs4911494
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH.

Plos One
Sun, Ye Y; Wang, Cheng C; Hao, Zheng Z; Dai, Jin J; Chen, Dongyang D; Xu, Zhihong Z; Shi, Dongquan D; Mao, Ping P; Teng, Huajian H; Gao, Xiang X; Hu, Zhibin Z; Shen, Hongbing H; Jiang, Qing Q
Publication Date: 2015

Variant appearance in text: rs4911494
PubMed Link: 25848760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Testing for genetic associations in arbitrarily structured populations.

Nature Genetics
Song, Minsun M; Hao, Wei W; Storey, John D JD
Publication Date: 2015-05

Variant appearance in text: rs4911494
PubMed Link: 25822090
Variant Present in the following documents:
  • NIHMS664591-supplement-1.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: UQCC1: R51Q
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, 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: UQCC: R51Q; rs4911494
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: UQCC: R51Q; rs4911494
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 6
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 9
View BVdb publication page



Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes.

Plos One
Hämäläinen, Satu S; Solovieva, Svetlana S; Vehmas, Tapio T; Luoma, Katariina K; Leino-Arjas, Päivi P; Hirvonen, Ari A
Publication Date: 2014

Variant appearance in text: rs4911494
PubMed Link: 24825461
Variant Present in the following documents:
  • Main text
  • pone.0097417.pdf
View BVdb publication page



Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: UQCC: R51Q
PubMed Link: 24705254
Variant Present in the following documents:
  • NIHMS4215-supplement-10.xlsx, sheet 2
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: UQCC: R51Q; rs4911494
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
  • mmc5.xlsx, sheet 3
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: UQCC: R51Q; rs4911494
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
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: rs4911494
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

Lancet (London, England)
, ; , ; Zeggini, Eleftheria E; Panoutsopoulou, Kalliope K; Southam, Lorraine L; Rayner, Nigel W NW; Day-Williams, Aaron G AG; Lopes, Margarida C MC; Boraska, Vesna V; Esko, Tonu T; Evangelou, Evangelos E; Hoffman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Ingvarsson, Thorvaldur T; Jonsdottir, Ingileif I; Jonnson, Helgi H; Kerkhof, Hanneke J HJ; Kloppenburg, Margreet M; Bos, Steffan D SD; Mangino, Massimo M; Metrustry, Sarah S; Slagboom, P Eline PE; Thorleifsson, Gudmar G; Raine, Emma V A EV; Ratnayake, Madhushika M; Ricketts, Michelle M; Beazley, Claude C; Blackburn, Hannah H; Bumpstead, Suzannah S; Elliott, Katherine S KS; Hunt, Sarah E SE; Potter, Simon C SC; Shin, So-Youn SY; Yadav, Vijay K VK; Zhai, Guangju G; Sherburn, Kate K; Dixon, Kate K; Arden, Elizabeth E; Aslam, Nadim N; Battley, Phillippa-kate PK; Carluke, Ian I; Doherty, Sally S; Gordon, Andrew A; Joseph, John J; Keen, Richard R; Koller, Nicola C NC; Mitchell, Sheryl S; O'Neill, Fiona F; Paling, Ellen E; Reed, Mike R MR; Rivadeneira, Fernando F; Swift, Diane D; Walker, Kirsten K; Watkins, Bridget B; Wheeler, Maggie M; Birrell, Fraser F; Ioannidis, John P A JP; Meulenbelt, Ingrid I; Metspalu, Andres A; Rai, Ashok A; Salter, Donald D; Stefansson, Kari K; Stykarsdottir, Unnur U; Uitterlinden, André G AG; van Meurs, Joyce B J JB; Chapman, Kay K; Deloukas, Panos P; Ollier, William E R WE; Wallis, Gillian A GA; Arden, Nigel N; Carr, Andrew A; Doherty, Michael M; McCaskie, Andrew A; Willkinson, J Mark JM; Ralston, Stuart H SH; Valdes, Ana M AM; Spector, Tim D TD; Loughlin, John J
Publication Date: 2012-09-01

Variant appearance in text: rs4911494
PubMed Link: 22763110
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



A versatile gene-based test for genome-wide association studies.

American Journal Of Human Genetics
Liu, Jimmy Z JZ; McRae, Allan F AF; Nyholt, Dale R DR; Medland, Sarah E SE; Wray, Naomi R NR; Brown, Kevin M KM; , ; Hayward, Nicholas K NK; Montgomery, Grant W GW; Visscher, Peter M PM; Martin, Nicholas G NG; Macgregor, Stuart S
Publication Date: 2010-07-09

Variant appearance in text: rs4911494
PubMed Link: 20598278
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

Bmc Medical Genetics
Zhao, Jianhua J; Li, Mingyao M; Bradfield, Jonathan P JP; Zhang, Haitao H; Mentch, Frank D FD; Wang, Kai K; Sleiman, Patrick M PM; Kim, Cecilia E CE; Glessner, Joseph T JT; Hou, Cuiping C; Keating, Brendan J BJ; Thomas, Kelly A KA; Garris, Maria L ML; Deliard, Sandra S; Frackelton, Edward C EC; Otieno, F George FG; Chiavacci, Rosetta M RM; Berkowitz, Robert I RI; Hakonarson, Hakon H; Grant, Struan F A SF
Publication Date: 2010-06-14

Variant appearance in text: rs4911494
PubMed Link: 20546612
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-96.pdf
View BVdb publication page



Genome-wide association study of height and body mass index in Australian twin families.

Twin Research And Human Genetics : The Official Journal Of The International Society For Twin Studies
Liu, Jimmy Z JZ; Medland, Sarah E SE; Wright, Margaret J MJ; Henders, Anjali K AK; Heath, Andrew C AC; Madden, Pamela A F PA; Duncan, Alexis A; Montgomery, Grant W GW; Martin, Nicholas G NG; McRae, Allan F AF
Publication Date: 2010-04

Variant appearance in text: rs4911494
PubMed Link: 20397748
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22.

Arthritis And Rheumatism
Kerkhof, Hanneke J M HJ; Lories, Rik J RJ; Meulenbelt, Ingrid I; Jonsdottir, Ingileif I; Valdes, Ana M AM; Arp, Pascal P; Ingvarsson, Thorvaldur T; Jhamai, Mila M; Jonsson, Helgi H; Stolk, Lisette L; Thorleifsson, Gudmar G; Zhai, Guangju G; Zhang, Feng F; Zhu, Yanyan Y; van der Breggen, Ruud R; Carr, Andrew A; Doherty, Michael M; Doherty, Sally S; Felson, David T DT; Gonzalez, Antonio A; Halldorsson, Bjarni V BV; Hart, Deborah J DJ; Hauksson, Valdimar B VB; Hofman, Albert A; Ioannidis, John P A JP; Kloppenburg, Margreet M; Lane, Nancy E NE; Loughlin, John J; Luyten, Frank P FP; Nevitt, Michael C MC; Parimi, Neeta N; Pols, Huibert A P HA; Rivadeneira, Fernando F; Slagboom, Eline P EP; Styrkársdóttir, Unnur U; Tsezou, Aspasia A; van de Putte, Tom T; Zmuda, Joseph J; Spector, Tim D TD; Stefansson, Kari K; Uitterlinden, André G AG; van Meurs, Joyce B J JB
Publication Date: 2010-02

Variant appearance in text: rs4911494
PubMed Link: 20112360
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

Plos Genetics
Soranzo, Nicole N; Rivadeneira, Fernando F; Chinappen-Horsley, Usha U; Malkina, Ida I; Richards, J Brent JB; Hammond, Naomi N; Stolk, Lisette L; Nica, Alexandra A; Inouye, Michael M; Hofman, Albert A; Stephens, Jonathan J; Wheeler, Eleanor E; Arp, Pascal P; Gwilliam, Rhian R; Jhamai, P Mila PM; Potter, Simon S; Chaney, Amy A; Ghori, Mohammed J R MJ; Ravindrarajah, Radhi R; Ermakov, Sergey S; Estrada, Karol K; Pols, Huibert A P HA; Williams, Frances M FM; McArdle, Wendy L WL; van Meurs, Joyce B JB; Loos, Ruth J F RJ; Dermitzakis, Emmanouil T ET; Ahmadi, Kourosh R KR; Hart, Deborah J DJ; Ouwehand, Willem H WH; Wareham, Nicholas J NJ; Barroso, Inês I; Sandhu, Manjinder S MS; Strachan, David P DP; Livshits, Gregory G; Spector, Timothy D TD; Uitterlinden, André G AG; Deloukas, Panos P
Publication Date: 2009-04

Variant appearance in text: rs4911494
PubMed Link: 19343178
Variant Present in the following documents:
  • Main text
  • pgen.1000445.pdf
View BVdb publication page