KIAA1614 c.901C>A ;(p.R301S)

Variant ID: 1-180886140-C-A

NM_020950.1(KIAA1614):c.901C>A;(p.R301S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The conservation of human functional variants and their effects across livestock species.

Communications Biology
Zhao, Rongrong R; Talenti, Andrea A; Fang, Lingzhao L; Liu, Shuli S; Liu, George G; Chue Hong, Neil P NP; Tenesa, Albert A; Hassan, Musa M; Prendergast, James G D JGD
Publication Date: 2022-09-21

Variant appearance in text: rs79485039
PubMed Link: 36131008
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3961.pdf
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: rs79485039
PubMed Link: 31562340
Variant Present in the following documents:
  • 41467_2019_12276_MOESM1_ESM.pdf
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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: rs79485039
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



Rare and low-frequency coding variants alter human adult height.

Nature
Marouli, Eirini E; Graff, Mariaelisa M; Medina-Gomez, Carolina C; Lo, Ken Sin KS; Wood, Andrew R AR; Kjaer, Troels R TR; Fine, Rebecca S RS; Lu, Yingchang Y; Schurmann, Claudia C; Highland, Heather M HM; Rüeger, Sina S; Thorleifsson, Gudmar G; Justice, Anne E AE; Lamparter, David D; Stirrups, Kathleen E KE; Turcot, Valérie V; Young, Kristin L KL; Winkler, Thomas W TW; Esko, Tõnu T; Karaderi, Tugce T; Locke, Adam E AE; Masca, Nicholas G D NG; Ng, Maggie C Y MC; Mudgal, Poorva P; Rivas, Manuel A MA; Vedantam, Sailaja S; Mahajan, Anubha A; Guo, Xiuqing X; Abecasis, Goncalo G; Aben, Katja K KK; Adair, Linda S LS; Alam, Dewan S DS; Albrecht, Eva E; Allin, Kristine H KH; Allison, Matthew M; Amouyel, Philippe P; Appel, Emil V EV; Arveiler, Dominique D; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Banas, Bernhard B; Bang, Lia E LE; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Bots, Michiel L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Breen, Gerome G; Brilliant, Murray H MH; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Carey, David J DJ; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Cocca, Massimiliano M; Collins, Francis S FS; Cook, James P JP; Corley, Janie J; Galbany, Jordi Corominas JC; Cox, Amanda J AJ; Cuellar-Partida, Gabriel G; Danesh, John J; Davies, Gail G; de Bakker, Paul I W PI; de Borst, Gert J GJ; de Denus, Simon S; de Groot, Mark C H MC; de Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; den Hollander, Anneke I AI; Dennis, Joe G JG; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dunning, Alison M AM; Easton, Douglas F DF; Ebeling, Tapani T; Edwards, Todd L TL; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Faul, Jessica D JD; Feitosa, Mary F MF; Feng, Shuang S; Ferrannini, Ele E; Ferrario, Marco M MM; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Giri, Ayush A; Girotto, Giorgia G; Gordon, Scott D SD; Gordon-Larsen, Penny P; Gorski, Mathias M; Grarup, Niels N; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; He, Liang L; Heid, Iris M IM; Heikkilä, Kauko K; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Hocking, Lynne J LJ; Hollensted, Mette M; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JM; Hoyng, Carel B CB; Huang, Paul L PL; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jhun, Min A MA; Jia, Yucheng Y; Jiang, Xuejuan X; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jousilahti, Pekka P; Jukema, J Wouter JW; Kahali, Bratati B; Kahn, René S RS; Kähönen, Mika M; Kamstrup, Pia R PR; Kanoni, Stavroula S; Kaprio, Jaakko J; Karaleftheri, Maria M; Kardia, Sharon L R SL; Karpe, Fredrik F; Kee, Frank F; Keeman, Renske R; Kiemeney, Lambertus A LA; Kitajima, Hidetoshi H; Kluivers, Kirsten B KB; Kocher, Thomas T; Komulainen, Pirjo P; Kontto, Jukka J; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kriebel, Jennifer J; Kuivaniemi, Helena H; Küry, Sébastien S; Kuusisto, Johanna J; La Bianca, Martina M; Laakso, Markku M; Lakka, Timo A TA; Lange, Ethan M EM; Lange, Leslie A LA; Langefeld, Carl D CD; Langenberg, Claudia C; Larson, Eric B EB; Lee, I-Te IT; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Yeheng Y; Liu, Yongmei Y; Lophatananon, Artitaya A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Mackey, David A DA; Madden, Pamela A F PA; Manning, Alisa K AK; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Martin, Nicholas G NG; Mazul, Angela L AL; Meidtner, Karina K; Metspalu, Andres A; Mitchell, Paul P; Mohlke, Karen L KL; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Nauck, Matthias M; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Ntalla, Ioanna I; O'Connel, Jeffrey R JR; Oksa, Heikki H; Loohuis, Loes M Olde LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CN; Pasterkamp, Gerard G; Patel, Aniruddh P AP; Pattie, Alison A; Pedersen, Oluf O; Peissig, Peggy L PL; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JR; Person, Thomas N TN; Pirie, Ailith A; Polasek, Ozren O; Posthuma, Danielle D; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil N; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sandow, Kevin K; Sapkota, Yadav Y; Sattar, Naveed N; Schmidt, Marjanka K MK; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati S; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert Vernon AV; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Stumvoll, Michael M; Surendran, Praveen P; 't Hart, Leen M LM; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Tromp, Gerard G; Trompet, Stella S; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; Tyrer, Jonathan P JP; Uher, Rudolf R; Uitterlinden, André G AG; Ulivi, Sheila S; van der Laan, Sander W SW; Van Der Leij, Andries R AR; van Duijn, Cornelia M CM; van Schoor, Natasja M NM; van Setten, Jessica J; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Edwards, Digna R Velez DR; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vozzi, Diego D; Walker, Mark M; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Wareham, Nicholas J NJ; Warren, Helen R HR; Wessel, Jennifer J; Willems, Sara M SM; Wilson, James G JG; Witte, Daniel R DR; Woods, Michael O MO; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yao, Pang P; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zhao, Wei W; Zheng, He H; Zhou, Wei W; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Boehnke, Michael M; Kathiresan, Sekar S; McCarthy, Mark I MI; Willer, Cristen J CJ; Stefansson, Kari K; Borecki, Ingrid B IB; Liu, Dajiang J DJ; North, Kari E KE; Heard-Costa, Nancy L NL; Pers, Tune H TH; Lindgren, Cecilia M CM; Oxvig, Claus C; Kutalik, Zoltán Z; Rivadeneira, Fernando F; Loos, Ruth J F RJ; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Deloukas, Panos P; Lettre, Guillaume G
Publication Date: 2017-02-09

Variant appearance in text: rs79485039
PubMed Link: 28146470
Variant Present in the following documents:
  • Main text
  • nihms834200.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: KIAA1614: 901C>A; R301S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Nature Genetics
Legati, Andrea A; Giovannini, Donatella D; Nicolas, Gaël G; López-Sánchez, Uriel U; Quintáns, Beatriz B; Oliveira, João R M JR; Sears, Renee L RL; Ramos, Eliana Marisa EM; Spiteri, Elizabeth E; Sobrido, María-Jesús MJ; Carracedo, Ángel Á; Castro-Fernández, Cristina C; Cubizolle, Stéphanie S; Fogel, Brent L BL; Goizet, Cyril C; Jen, Joanna C JC; Kirdlarp, Suppachok S; Lang, Anthony E AE; Miedzybrodzka, Zosia Z; Mitarnun, Witoon W; Paucar, Martin M; Paulson, Henry H; Pariente, Jérémie J; Richard, Anne-Claire AC; Salins, Naomi S NS; Simpson, Sheila A SA; Striano, Pasquale P; Svenningsson, Per P; Tison, François F; Unni, Vivek K VK; Vanakker, Olivier O; Wessels, Marja W MW; Wetchaphanphesat, Suppachok S; Yang, Michele M; Boller, Francois F; Campion, Dominique D; Hannequin, Didier D; Sitbon, Marc M; Geschwind, Daniel H DH; Battini, Jean-Luc JL; Coppola, Giovanni G
Publication Date: 2015-06

Variant appearance in text: rs79485039
PubMed Link: 25938945
Variant Present in the following documents:
  • Main text
  • nihms679154.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: KIAA1614: R301S
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page