SLC35E3 c.182G>C ;(p.C61S)

Variant ID: 12-69140339-G-C

NM_018656.2(SLC35E3):c.182G>C;(p.C61S)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: SLC35E3: 182G>C; C61S; rs61743810
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
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Cell Reports
Xie, Shaozhen S; Ni, Jing J; McFaline-Figueroa, J Ricardo JR; Wang, Yanzhi Y; Bronson, Roderick T RT; Ligon, Keith L KL; Wen, Patrick Y PY; Roberts, Thomas M TM; Zhao, Jean J JJ
Publication Date: 2020-09-29

Variant appearance in text: SLC35E3: C61S
PubMed Link: 32997991
Variant Present in the following documents:
  • NIHMS1633676-supplement-2.xlsx, sheet 1
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: SLC35E3: C61S; rs61743810
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
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: SLC35E3: 182G>C; Cys61Ser; rs61743810
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: SLC35E3: C61S; rs61743810
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
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: SLC35E3: 182G>C; Cys61Ser; rs61743810
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: SLC35E3: C61S; rs61743810
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
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: rs61743810
PubMed Link: 28146470
Variant Present in the following documents:
  • Main text
  • nihms834200.pdf
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: SLC35E3: C61S; rs61743810
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 10
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: SLC35E3: C61S; rs61743810
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_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: SLC35E3: C61S; rs61743810
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: SLC35E3: C61S; rs61743810
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 16
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: SLC35E3: C61S; rs61743810
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page