HIP1R c.2813G>T ;(p.C938F)

Variant ID: 12-123345509-G-T

NM_003959.1(HIP1R):c.2813G>T;(p.C938F)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: HIP1R: C938F
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



A unifying statistical framework to discover disease genes from GWASs.

Cell Genomics
McManus, Justin N J JNJ; Lovelett, Robert J RJ; Lowengrub, Daniel D; Christensen, Sarah S
Publication Date: 2023-03-08

Variant appearance in text: rs34149579
PubMed Link: 36950381
Variant Present in the following documents:
  • mmc7.pdf
  • mmc1.pdf
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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs34149579
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
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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: HIP1R: C938F; rs34149579
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.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: HIP1R: C938F; rs34149579
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



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

Nature Genetics
Turcot, Valérie V; Lu, Yingchang Y; Highland, Heather M HM; Schurmann, Claudia C; Justice, Anne E AE; Fine, Rebecca S RS; Bradfield, Jonathan P JP; Esko, Tõnu T; Giri, Ayush A; Graff, Mariaelisa M; Guo, Xiuqing X; Hendricks, Audrey E AE; Karaderi, Tugce T; Lempradl, Adelheid A; Locke, Adam E AE; Mahajan, Anubha A; Marouli, Eirini E; Sivapalaratnam, Suthesh S; Young, Kristin L KL; Alfred, Tamuno T; Feitosa, Mary F MF; Masca, Nicholas G D NGD; Manning, Alisa K AK; Medina-Gomez, Carolina C; Mudgal, Poorva P; Ng, Maggie C Y MCY; Reiner, Alex P AP; Vedantam, Sailaja S; Willems, Sara M SM; Winkler, Thomas W TW; Abecasis, Gonçalo G; Aben, Katja K KK; Alam, Dewan S DS; Alharthi, Sameer E SE; Allison, Matthew M; Amouyel, Philippe P; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Bang, Lia E LE; Barroso, Inês I; Bastarache, Lisa L; Benn, Marianne M; 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; 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; Brumat, Marco M; Burt, Amber A AA; Butterworth, Adam S AS; Campbell, Peter T PT; Cappellani, Stefania S; Carey, David J DJ; Catamo, Eulalia E; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der I 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; Corominas Galbany, Jordi J; Cox, Amanda J AJ; Crosslin, David S DS; Cuellar-Partida, Gabriel G; D'Eustacchio, Angela A; Danesh, John J; Davies, Gail G; Bakker, Paul I W PIW; Groot, Mark C H MCH; Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; Heijer, Martin M; Hollander, Anneke I AI; Ruijter, Hester M HM; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Edwards, Todd L TL; Ellinghaus, David D; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Farooqi, I Sadaf IS; Faul, Jessica D JD; Fauser, Sascha S; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franco, Oscar H OH; Franke, Andre A; Franks, Paul W PW; Friedrich, Nele N; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Gibson, Jane J; Giedraitis, Vilmantas V; Gjesing, Anette P AP; Gordon-Larsen, Penny P; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grant, Struan F A SFA; Grarup, Niels N; Griffiths, Helen L HL; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Haessler, Jeff J; Hakonarson, Hakon H; Hammerschlag, Anke R AR; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Have, Christian T CT; Hayward, Caroline C; He, Liang L; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Heid, Iris M IM; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Huang, Paul L PL; Huffman, Jennifer E JE; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jia, Yucheng Y; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; 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 SLR; Karpe, Fredrik F; Kathiresan, Sekar S; Kee, Frank F; Kiemeney, Lambertus A LA; Kim, Eric E; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kooperberg, Charles C; Korhonen, Tellervo T; Kovacs, Peter P; Kuivaniemi, Helena H; Kutalik, Zoltán Z; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Ethan M EM; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Keng-Hung KH; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Liu, Yongmei Y; Lo, Ken S KS; Lophatananon, Artitaya A; Lotery, Andrew J AJ; Loukola, Anu A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Männistö, Satu S; Marenne, Gaëlle G; Mazul, Angela L AL; McCarthy, Mark I MI; McKean-Cowdin, Roberta R; Medland, Sarah E SE; Meidtner, Karina K; Milani, Lili L; Mistry, Vanisha V; Mitchell, Paul P; Mohlke, Karen L KL; Moilanen, Leena L; Moitry, Marie M; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Moore, Carmel C; Mori, Trevor A TA; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Nyholt, Dale R DR; O'Connel, Jeffrey R JR; O'Donoghue, Michelle L ML; Olde Loohuis, Loes M LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; 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 JRB; Pers, Tune H TH; Person, Thomas N TN; Peters, Annette A; Petersen, Eva R B ERB; Peyser, Patricia A PA; Pirie, Ailith A; Polasek, Ozren O; Polderman, Tinca J TJ; Puolijoki, Hannu H; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Renström, Frida F; Rheinberger, Myriam M; Ridker, Paul M PM; Rioux, John D JD; Rivas, Manuel A MA; Roberts, David J DJ; Robertson, Neil R NR; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sapkota, Yadav Y; Sattar, Naveed N; Schoen, Robert E RE; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati H SH; Sheu, Wayne H-H WH; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Albert V AV; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; 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; Swift, Amy J AJ; Tada, Hayato H; Tansey, Katherine E KE; 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; 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; Uusitupa, Matti M; Laan, Sander W SW; Duijn, Cornelia M CM; Leeuwen, Nienke N; van Setten, Jessica J; Vanhala, Mauno M; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Velez Edwards, Digna R DR; Vermeulen, Sita H SH; Veronesi, Giovanni G; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Völker, Uwe U; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Ware, Erin B EB; 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; Witte, Daniel R DR; Wood, Andrew R AR; 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; Zhou, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Pospisilik, John A JA; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; North, Kari E KE; Lindgren, Cecilia M CM; Hirschhorn, Joel N JN; Loos, Ruth J F RJF
Publication Date: 2018-01

Variant appearance in text: HIP1R: 2813G>T; Cys938Phe; rs34149579
PubMed Link: 29273807
Variant Present in the following documents:
  • Main text
  • nihms920811.pdf
  • NIHMS920811-supplement-2.xlsx, sheet 25
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: HIP1R: C938F; rs34149579
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



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: HIP1R: C938F; rs34149579
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.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: HIP1R: C938F; rs34149579
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: HIP1R: C938F; rs34149579
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9
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: HIP1R: C938F; rs34149579
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page