Variant ID: 1-11253688-C-T

NM_004958.3(MTOR):c.4253+5627G>A

This variant was identified in 2 publications




Publications:


Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics
Y Tanigawa, M Wainberg, J Karjalainen, T Kiiskinen, G Venkataraman, S Lemmelä, JA Turunen, RR Graham, AS Havulinna, M Perola, A Palotie, , MJ Daly, MA Rivas
Publication Date: 2020-05

Variant appearance in text: ANGPTL7: Arg177Ter; rs143435072
PubMed Link: 32369491
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Nature Genetics
V Turcot, Y Lu, HM Highland, C Schurmann, AE Justice, RS Fine, JP Bradfield, T Esko, A Giri, M Graff, X Guo, AE Hendricks, T Karaderi, A Lempradl, AE Locke, A Mahajan, E Marouli, S Sivapalaratnam, KL Young, T Alfred, MF Feitosa, NGD Masca, AK Manning, C Medina-Gomez, P Mudgal, MCY Ng, AP Reiner, S Vedantam, SM Willems, TW Winkler, G Abecasis, KK Aben, DS Alam, SE Alharthi, M Allison, P Amouyel, FW Asselbergs, PL Auer, B Balkau, LE Bang, I Barroso, L Bastarache, M Benn, S Bergmann, LF Bielak, M Blüher, M Boehnke, H Boeing, E Boerwinkle, CA Böger, J Bork-Jensen, ML Bots, EP Bottinger, DW Bowden, I Brandslund, G Breen, MH Brilliant, L Broer, M Brumat, AA Burt, AS Butterworth, PT Campbell, S Cappellani, DJ Carey, E Catamo, MJ Caulfield, JC Chambers, DI Chasman, YI Chen, R Chowdhury, C Christensen, AY Chu, M Cocca, FS Collins, JP Cook, J Corley, J Corominas Galbany, AJ Cox, DS Crosslin, G Cuellar-Partida, A D'Eustacchio, J Danesh, G Davies, PIW Bakker, MCH Groot, R Mutsert, IJ Deary, G Dedoussis, EW Demerath, M Heijer, AI Hollander, HM Ruijter, JG Dennis, JC Denny, E Di Angelantonio, F Drenos, M Du, MP Dubé, AM Dunning, DF Easton, TL Edwards, D Ellinghaus, PT Ellinor, P Elliott, E Evangelou, AE Farmaki, IS Farooqi, JD Faul, S Fauser, S Feng, E Ferrannini, J Ferrieres, JC Florez, I Ford, M Fornage, OH Franco, A Franke, PW Franks, N Friedrich, R Frikke-Schmidt, TE Galesloot, W Gan, I Gandin, P Gasparini, J Gibson, V Giedraitis, AP Gjesing, P Gordon-Larsen, M Gorski, HJ Grabe, SFA Grant, N Grarup, HL Griffiths, ML Grove, V Gudnason, S Gustafsson, J Haessler, H Hakonarson, AR Hammerschlag, T Hansen, KM Harris, TB Harris, AT Hattersley, CT Have, C Hayward, L He, NL Heard-Costa, AC Heath, IM Heid, Ø Helgeland, J Hernesniemi, AW Hewitt, OL Holmen, GK Hovingh, JMM Howson, Y Hu, PL Huang, JE Huffman, MA Ikram, E Ingelsson, AU Jackson, JH Jansson, GP Jarvik, GB Jensen, Y Jia, S Johansson, ME Jørgensen, T Jørgensen, JW Jukema, B Kahali, RS Kahn, M Kähönen, PR Kamstrup, S Kanoni, J Kaprio, M Karaleftheri, SLR Kardia, F Karpe, S Kathiresan, F Kee, LA Kiemeney, E Kim, H Kitajima, P Komulainen, JS Kooner, C Kooperberg, T Korhonen, P Kovacs, H Kuivaniemi, Z Kutalik, K Kuulasmaa, J Kuusisto, M Laakso, TA Lakka, D Lamparter, EM Lange, LA Lange, C Langenberg, EB Larson, NR Lee, T Lehtimäki, CE Lewis, H Li, J Li, R Li-Gao, H Lin, KH Lin, LA Lin, X Lin, L Lind, J Lindström, A Linneberg, CT Liu, DJ Liu, Y Liu, KS Lo, A Lophatananon, AJ Lotery, A Loukola, J Luan, SA Lubitz, LP Lyytikäinen, S Männistö, G Marenne, AL Mazul, MI McCarthy, R McKean-Cowdin, SE Medland, K Meidtner, L Milani, V Mistry, P Mitchell, KL Mohlke, L Moilanen, M Moitry, GW Montgomery, DO Mook-Kanamori, C Moore, TA Mori, AD Morris, AP Morris, M Müller-Nurasyid, PB Munroe, MA Nalls, N Narisu, CP Nelson, M Neville, SF Nielsen, K Nikus, PR Njølstad, BG Nordestgaard, DR Nyholt, JR O'Connel, ML O'Donoghue, LM Olde Loohuis, RA Ophoff, KR Owen, CJ Packard, S Padmanabhan, CNA Palmer, ND Palmer, G Pasterkamp, AP Patel, A Pattie, O Pedersen, PL Peissig, GM Peloso, CE Pennell, M Perola, JA Perry, JRB Perry, TH Pers, TN Person, A Peters, ERB Petersen, PA Peyser, A Pirie, O Polasek, TJ Polderman, H Puolijoki, OT Raitakari, A Rasheed, R Rauramaa, DF Reilly, F Renström, M Rheinberger, PM Ridker, JD Rioux, MA Rivas, DJ Roberts, NR Robertson, A Robino, O Rolandsson, I Rudan, KS Ruth, D Saleheen, V Salomaa, NJ Samani, Y Sapkota, N Sattar, RE Schoen, PJ Schreiner, MB Schulze, RA Scott, MP Segura-Lepe, SH Shah, WH Sheu, X Sim, AJ Slater, KS Small, AV Smith, L Southam, TD Spector, EK Speliotes, JM Starr, K Stefansson, V Steinthorsdottir, KE Stirrups, K Strauch, HM Stringham, M Stumvoll, L Sun, P Surendran, AJ Swift, H Tada, KE Tansey, JC Tardif, KD Taylor, A Teumer, DJ Thompson, G Thorleifsson, U Thorsteinsdottir, BH Thuesen, A Tönjes, G Tromp, S Trompet, E Tsafantakis, J Tuomilehto, A Tybjaerg-Hansen, JP Tyrer, R Uher, AG Uitterlinden, M Uusitupa, SW Laan, CM Duijn, N Leeuwen, J van Setten, M Vanhala, A Varbo, TV Varga, R Varma, DR Velez Edwards, SH Vermeulen, G Veronesi, H Vestergaard, V Vitart, TF Vogt, U Völker, D Vuckovic, LE Wagenknecht, M Walker, L Wallentin, F Wang, CA Wang, S Wang, Y Wang, EB Ware, NJ Wareham, HR Warren, DM Waterworth, J Wessel, HD White, CJ Willer, JG Wilson, DR Witte, AR Wood, Y Wu, H Yaghootkar, J Yao, P Yao, LM Yerges-Armstrong, R Young, E Zeggini, X Zhan, W Zhang, JH Zhao, W Zhao, W Zhao, W Zhou, KT Zondervan, , , , , , , , , , , , JI Rotter, JA Pospisilik, F Rivadeneira, IB Borecki, P Deloukas, TM Frayling, G Lettre, KE North, CM Lindgren, JN Hirschhorn, RJF Loos
Publication Date: 2018-01

Variant appearance in text: rs143435072
PubMed Link: 29273807
Variant Present in the following documents:
  • NIHMS920811-supplement-2.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000361445.4 c.4253+5627G>A - intron_variant - 28/57
ENST00000376819.3 c.529C>T p.Arg177* stop_gained 3/5 -
ENST00000476934.1 n.5C>T - non_coding_transcript_exon_variant 1/3 -
NM_004958.4 c.4253+5627G>A - intron_variant - 28/57
NM_021146.4 c.529C>T p.Arg177* stop_gained 3/5 -