HOOK1 c.2129A>G ;(p.H710R)

Variant ID: 1-60338579-A-G

NM_015888.4(HOOK1):c.2129A>G;(p.H710R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: HOOK1: 2129A>G; His710Arg; rs34360310
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
  • mmc5.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs34360310
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Genome Biology
Brownstein, Catherine A CA; Beggs, Alan H AH; Homer, Nils N; Merriman, Barry B; Yu, Timothy W TW; Flannery, Katherine C KC; DeChene, Elizabeth T ET; Towne, Meghan C MC; Savage, Sarah K SK; Price, Emily N EN; Holm, Ingrid A IA; Luquette, Lovelace J LJ; Lyon, Elaine E; Majzoub, Joseph J; Neupert, Peter P; McCallie, David D; Szolovits, Peter P; Willard, Huntington F HF; Mendelsohn, Nancy J NJ; Temme, Renee R; Finkel, Richard S RS; Yum, Sabrina W SW; Medne, Livija L; Sunyaev, Shamil R SR; Adzhubey, Ivan I; Cassa, Christopher A CA; de Bakker, Paul I W PI; Duzkale, Hatice H; Dworzyński, Piotr P; Fairbrother, William W; Francioli, Laurent L; Funke, Birgit H BH; Giovanni, Monica A MA; Handsaker, Robert E RE; Lage, Kasper K; Lebo, Matthew S MS; Lek, Monkol M; Leshchiner, Ignaty I; MacArthur, Daniel G DG; McLaughlin, Heather M HM; Murray, Michael F MF; Pers, Tune H TH; Polak, Paz P PP; Raychaudhuri, Soumya S; Rehm, Heidi L HL; Soemedi, Rachel R; Stitziel, Nathan O NO; Vestecka, Sara S; Supper, Jochen J; Gugenmus, Claudia C; Klocke, Bernward B; Hahn, Alexander A; Schubach, Max M; Menzel, Mortiz M; Biskup, Saskia S; Freisinger, Peter P; Deng, Mario M; Braun, Martin M; Perner, Sven S; Smith, Richard J H RJ; Andorf, Janeen L JL; Huang, Jian J; Ryckman, Kelli K; Sheffield, Val C VC; Stone, Edwin M EM; Bair, Thomas T; Black-Ziegelbein, E Ann EA; Braun, Terry A TA; Darbro, Benjamin B; DeLuca, Adam P AP; Kolbe, Diana L DL; Scheetz, Todd E TE; Shearer, Aiden E AE; Sompallae, Rama R; Wang, Kai K; Bassuk, Alexander G AG; Edens, Erik E; Mathews, Katherine K; Moore, Steven A SA; Shchelochkov, Oleg A OA; Trapane, Pamela P; Bossler, Aaron A; Campbell, Colleen A CA; Heusel, Jonathan W JW; Kwitek, Anne A; Maga, Tara T; Panzer, Karin K; Wassink, Thomas T; Van Daele, Douglas D; Azaiez, Hela H; Booth, Kevin K; Meyer, Nic N; Segal, Michael M MM; Williams, Marc S MS; Tromp, Gerard G; White, Peter P; Corsmeier, Donald D; Fitzgerald-Butt, Sara S; Herman, Gail G; Lamb-Thrush, Devon D; McBride, Kim L KL; Newsom, David D; Pierson, Christopher R CR; Rakowsky, Alexander T AT; Maver, Aleš A; Lovrečić, Luca L; Palandačić, Anja A; Peterlin, Borut B; Torkamani, Ali A; Wedell, Anna A; Huss, Mikael M; Alexeyenko, Andrey A; Lindvall, Jessica M JM; Magnusson, Måns M; Nilsson, Daniel D; Stranneheim, Henrik H; Taylan, Fulya F; Gilissen, Christian C; Hoischen, Alexander A; van Bon, Bregje B; Yntema, Helger H; Nelen, Marcel M; Zhang, Weidong W; Sager, Jason J; Zhang, Lu L; Blair, Kathryn K; Kural, Deniz D; Cariaso, Michael M; Lennon, Greg G GG; Javed, Asif A; Agrawal, Saloni S; Ng, Pauline C PC; Sandhu, Komal S KS; Krishna, Shuba S; Veeramachaneni, Vamsi V; Isakov, Ofer O; Halperin, Eran E; Friedman, Eitan E; Shomron, Noam N; Glusman, Gustavo G; Roach, Jared C JC; Caballero, Juan J; Cox, Hannah C HC; Mauldin, Denise D; Ament, Seth A SA; Rowen, Lee L; Richards, Daniel R DR; San Lucas, F Anthony FA; Gonzalez-Garay, Manuel L ML; Caskey, C Thomas CT; Bai, Yu Y; Huang, Ying Y; Fang, Fang F; Zhang, Yan Y; Wang, Zhengyuan Z; Barrera, Jorge J; Garcia-Lobo, Juan M JM; González-Lamuño, Domingo D; Llorca, Javier J; Rodriguez, Maria C MC; Varela, Ignacio I; Reese, Martin G MG; De La Vega, Francisco M FM; Kiruluta, Edward E; Cargill, Michele M; Hart, Reece K RK; Sorenson, Jon M JM; Lyon, Gholson J GJ; Stevenson, David A DA; Bray, Bruce E BE; Moore, Barry M BM; Eilbeck, Karen K; Yandell, Mark M; Zhao, Hongyu H; Hou, Lin L; Chen, Xiaowei X; Yan, Xiting X; Chen, Mengjie M; Li, Cong C; Yang, Can C; Gunel, Murat M; Li, Peining P; Kong, Yong Y; Alexander, Austin C AC; Albertyn, Zayed I ZI; Boycott, Kym M KM; Bulman, Dennis E DE; Gordon, Paul M K PM; Innes, A Micheil AM; Knoppers, Bartha M BM; Majewski, Jacek J; Marshall, Christian R CR; Parboosingh, Jillian S JS; Sawyer, Sarah L SL; Samuels, Mark E ME; Schwartzentruber, Jeremy J; Kohane, Isaac S IS; Margulies, David M DM
Publication Date: 2014-03-25

Variant appearance in text: rs34360310
PubMed Link: 24667040
Variant Present in the following documents:
  • gb-2014-15-3-r53-S3.pdf
View BVdb publication page