G6PC2 c.970T>C ;(p.S324P)

Variant ID: 2-169764491-T-C

NM_021176.2(G6PC2):c.970T>C;(p.S324P)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.

Communications Biology
DiCorpo, Daniel D; Gaynor, Sheila M SM; Russell, Emily M EM; Westerman, Kenneth E KE; Raffield, Laura M LM; Majarian, Timothy D TD; Wu, Peitao P; Sarnowski, Chloé C; Highland, Heather M HM; Jackson, Anne A; Hasbani, Natalie R NR; de Vries, Paul S PS; Brody, Jennifer A JA; Hidalgo, Bertha B; Guo, Xiuqing X; Perry, James A JA; O'Connell, Jeffrey R JR; Lent, Samantha S; Montasser, May E ME; Cade, Brian E BE; Jain, Deepti D; Wang, Heming H; D'Oliveira Albanus, Ricardo R; Varshney, Arushi A; Yanek, Lisa R LR; Lange, Leslie L; Palmer, Nicholette D ND; Almeida, Marcio M; Peralta, Juan M JM; Aslibekyan, Stella S; Baldridge, Abigail S AS; Bertoni, Alain G AG; Bielak, Lawrence F LF; Chen, Chung-Shiuan CS; Chen, Yii-Der Ida YI; Choi, Won Jung WJ; Goodarzi, Mark O MO; Floyd, James S JS; Irvin, Marguerite R MR; Kalyani, Rita R RR; Kelly, Tanika N TN; Lee, Seonwook S; Liu, Ching-Ti CT; Loesch, Douglas D; Manson, JoAnn E JE; Minster, Ryan L RL; Naseri, Take T; Pankow, James S JS; Rasmussen-Torvik, Laura J LJ; Reiner, Alexander P AP; Reupena, Muagututi'a Sefuiva MS; Selvin, Elizabeth E; Smith, Jennifer A JA; Weeks, Daniel E DE; Xu, Huichun H; Yao, Jie J; Zhao, Wei W; Parker, Stephen S; Alonso, Alvaro A; Arnett, Donna K DK; Blangero, John J; Boerwinkle, Eric E; Correa, Adolfo A; Cupples, L Adrienne LA; Curran, Joanne E JE; Duggirala, Ravindranath R; He, Jiang J; Heckbert, Susan R SR; Kardia, Sharon L R SLR; Kim, Ryan W RW; Kooperberg, Charles C; Liu, Simin S; Mathias, Rasika A RA; McGarvey, Stephen T ST; Mitchell, Braxton D BD; Morrison, Alanna C AC; Peyser, Patricia A PA; Psaty, Bruce M BM; Redline, Susan S; Shuldiner, Alan R AR; Taylor, Kent D KD; Vasan, Ramachandran S RS; Viaud-Martinez, Karine A KA; Florez, Jose C JC; Wilson, James G JG; Sladek, Robert R; Rich, Stephen S SS; Rotter, Jerome I JI; Lin, Xihong X; Dupuis, Josée J; Meigs, James B JB; Wessel, Jennifer J; Manning, Alisa K AK
Publication Date: 2022-07-28

Variant appearance in text: rs2232326
PubMed Link: 35902682
Variant Present in the following documents:
  • Main text
  • 42003_2022_3702_MOESM1_ESM.pdf
  • 42003_2022_Article_3702.pdf
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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: G6PC2: S324P; rs2232326
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Non-synonymous single nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity and fasting blood glucose.

The Journal Of Biological Chemistry
Overway, Emily M EM; Bosma, Karin J KJ; Claxton, Derek P DP; Oeser, James K JK; Singh, Kritika K; Breidenbach, Lindsay B LB; Mchaourab, Hassane S HS; Davis, Lea K LK; O'Brien, Richard M RM
Publication Date: 2021-12-23

Variant appearance in text: G6PC2: Ser324Pro; rs2232326
PubMed Link: 34954144
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose.

The Journal Of Biological Chemistry
Overway, Emily M EM; Bosma, Karin J KJ; Claxton, Derek P DP; Oeser, James K JK; Singh, Kritika K; Breidenbach, Lindsay B LB; Mchaourab, Hassane S HS; Davis, Lea K LK; O'Brien, Richard M RM
Publication Date: 2022-02

Variant appearance in text: G6PC2: Ser324Pro; rs2232326
PubMed Link: 34954144
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: G6PC2: S324P; rs2232326
PubMed Link: 34059833
Variant Present in the following documents:
  • EMS120610-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: G6PC2: S324P; rs2232326
PubMed Link: 34059833
Variant Present in the following documents:
  • EMS120610-supplement-Supplementary_Tables.xlsx, sheet 14
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Glucose metabolism-related gene polymorphisms as the risk predictors of type 2 diabetes.

Diabetology & Metabolic Syndrome
Li, Cuilin C; Yang, Yuping Y; Liu, Xin X; Li, Zhongyu Z; Liu, Hong H; Tan, Qiuhong Q
Publication Date: 2020-11-04

Variant appearance in text: G6PC2: S324P; rs2232326
PubMed Link: 33292424
Variant Present in the following documents:
  • Main text
  • 13098_2020_Article_604.pdf
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Convex combination sequence kernel association test for rare-variant studies.

Genetic Epidemiology
Posner, Daniel C DC; Lin, Honghuang H; Meigs, James B JB; Kolaczyk, Eric D ED; Dupuis, Josée J
Publication Date: 2020-06

Variant appearance in text: rs2232326
PubMed Link: 32100372
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic Basis of Metabolic Disease.

Cell
Barroso, Inês I; McCarthy, Mark I MI
Publication Date: 2019-03-21

Variant appearance in text: G6PC2: Ser324Pro
PubMed Link: 30901536
Variant Present in the following documents:
  • Main text
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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: G6PC2: 970T>C; Ser324Pro; rs2232326
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.

Plos Genetics
Spracklen, Cassandra N CN; Shi, Jinxiu J; Vadlamudi, Swarooparani S; Wu, Ying Y; Zou, Meng M; Raulerson, Chelsea K CK; Davis, James P JP; Zeynalzadeh, Monica M; Jackson, Kayla K; Yuan, Wentao W; Wang, Haifeng H; Shou, Weihua W; Wang, Ying Y; Luo, Jingchun J; Lange, Leslie A LA; Lange, Ethan M EM; Popkin, Barry M BM; Gordon-Larsen, Penny P; Du, Shufa S; Huang, Wei W; Mohlke, Karen L KL
Publication Date: 2018-04

Variant appearance in text: G6PC2: Ser324Pro; rs2232326
PubMed Link: 29621232
Variant Present in the following documents:
  • Main text
  • pgen.1007275.pdf
  • pgen.1007275.s018.xlsx, sheet 1
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Genetic aetiology of glycaemic traits: approaches and insights.

Human Molecular Genetics
Wheeler, Eleanor E; Marenne, Gaëlle G; Barroso, Inês I
Publication Date: 2017-10-01

Variant appearance in text: G6PC2: S324P
PubMed Link: 28977447
Variant Present in the following documents:
  • Main text
  • ddx293.pdf
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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: G6PC2: 970T>C; Ser324Pro
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
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Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.

Plos One
Boortz, Kayla A KA; Syring, Kristen E KE; Pound, Lynley D LD; Wang, Yingda Y; Oeser, James K JK; O'Brien, Richard M RM
Publication Date: 2016

Variant appearance in text: G6PC2: Ser324Pro; rs2232326
PubMed Link: 27611587
Variant Present in the following documents:
  • Main text
  • pone.0162439.pdf
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2232326
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Nature Communications
Wessel, Jennifer J; Chu, Audrey Y AY; Willems, Sara M SM; Wang, Shuai S; Yaghootkar, Hanieh H; Brody, Jennifer A JA; Dauriz, Marco M; Hivert, Marie-France MF; Raghavan, Sridharan S; Lipovich, Leonard L; Hidalgo, Bertha B; Fox, Keolu K; Huffman, Jennifer E JE; An, Ping P; Lu, Yingchang Y; Rasmussen-Torvik, Laura J LJ; Grarup, Niels N; Ehm, Margaret G MG; Li, Li L; Baldridge, Abigail S AS; Stančáková, Alena A; Abrol, Ravinder R; Besse, Céline C; Boland, Anne A; Bork-Jensen, Jette J; Fornage, Myriam M; Freitag, Daniel F DF; Garcia, Melissa E ME; Guo, Xiuqing X; Hara, Kazuo K; Isaacs, Aaron A; Jakobsdottir, Johanna J; Lange, Leslie A LA; Layton, Jill C JC; Li, Man M; Hua Zhao, Jing J; Meidtner, Karina K; Morrison, Alanna C AC; Nalls, Mike A MA; Peters, Marjolein J MJ; Sabater-Lleal, Maria M; Schurmann, Claudia C; Silveira, Angela A; Smith, Albert V AV; Southam, Lorraine L; Stoiber, Marcus H MH; Strawbridge, Rona J RJ; Taylor, Kent D KD; Varga, Tibor V TV; Allin, Kristine H KH; Amin, Najaf N; Aponte, Jennifer L JL; Aung, Tin T; Barbieri, Caterina C; Bihlmeyer, Nathan A NA; Boehnke, Michael M; Bombieri, Cristina C; Bowden, Donald W DW; Burns, Sean M SM; Chen, Yuning Y; Chen, Yii-DerI YD; Cheng, Ching-Yu CY; Correa, Adolfo A; Czajkowski, Jacek J; Dehghan, Abbas A; Ehret, Georg B GB; Eiriksdottir, Gudny G; Escher, Stefan A SA; Farmaki, Aliki-Eleni AE; Frånberg, Mattias M; Gambaro, Giovanni G; Giulianini, Franco F; Goddard, William A WA; Goel, Anuj A; Gottesman, Omri O; Grove, Megan L ML; Gustafsson, Stefan S; Hai, Yang Y; Hallmans, Göran G; Heo, Jiyoung J; Hoffmann, Per P; Ikram, Mohammad K MK; Jensen, Richard A RA; Jørgensen, Marit E ME; Jørgensen, Torben T; Karaleftheri, Maria M; Khor, Chiea C CC; Kirkpatrick, Andrea A; Kraja, Aldi T AT; Kuusisto, Johanna J; Lange, Ethan M EM; Lee, I T IT; Lee, Wen-Jane WJ; Leong, Aaron A; Liao, Jiemin J; Liu, Chunyu C; Liu, Yongmei Y; Lindgren, Cecilia M CM; Linneberg, Allan A; Malerba, Giovanni G; Mamakou, Vasiliki V; Marouli, Eirini E; Maruthur, Nisa M NM; Matchan, Angela A; McKean-Cowdin, Roberta R; McLeod, Olga O; Metcalf, Ginger A GA; Mohlke, Karen L KL; Muzny, Donna M DM; Ntalla, Ioanna I; Palmer, Nicholette D ND; Pasko, Dorota D; Peter, Andreas A; Rayner, Nigel W NW; Renström, Frida F; Rice, Ken K; Sala, Cinzia F CF; Sennblad, Bengt B; Serafetinidis, Ioannis I; Smith, Jennifer A JA; Soranzo, Nicole N; Speliotes, Elizabeth K EK; Stahl, Eli A EA; Stirrups, Kathleen K; Tentolouris, Nikos N; Thanopoulou, Anastasia A; Torres, Mina M; Traglia, Michela M; Tsafantakis, Emmanouil E; Javad, Sundas S; Yanek, Lisa R LR; Zengini, Eleni E; Becker, Diane M DM; Bis, Joshua C JC; Brown, James B JB; Cupples, L Adrienne LA; Hansen, Torben T; Ingelsson, Erik E; Karter, Andrew J AJ; Lorenzo, Carlos C; Mathias, Rasika A RA; Norris, Jill M JM; Peloso, Gina M GM; Sheu, Wayne H-H WH; Toniolo, Daniela D; Vaidya, Dhananjay D; Varma, Rohit R; Wagenknecht, Lynne E LE; Boeing, Heiner H; Bottinger, Erwin P EP; Dedoussis, George G; Deloukas, Panos P; Ferrannini, Ele E; Franco, Oscar H OH; Franks, Paul W PW; Gibbs, Richard A RA; Gudnason, Vilmundur V; Hamsten, Anders A; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; Hofman, Albert A; Jansson, Jan-Håkan JH; Langenberg, Claudia C; Launer, Lenore J LJ; Levy, Daniel D; Oostra, Ben A BA; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Padmanabhan, Sandosh S; Pankow, James S JS; Polasek, Ozren O; Province, Michael A MA; Rich, Stephen S SS; Ridker, Paul M PM; Rudan, Igor I; Schulze, Matthias B MB; Smith, Blair H BH; Uitterlinden, André G AG; Walker, Mark M; Watkins, Hugh H; Wong, Tien Y TY; Zeggini, Eleftheria E; , ; Laakso, Markku M; Borecki, Ingrid B IB; Chasman, Daniel I DI; Pedersen, Oluf O; Psaty, Bruce M BM; Tai, E Shyong ES; van Duijn, Cornelia M CM; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Boerwinkle, Eric E; Kao, W H Linda WH; Florez, Jose C JC; Loos, Ruth J F RJ; Wilson, James G JG; Frayling, Timothy M TM; Siscovick, David S DS; Dupuis, Josée J; Rotter, Jerome I JI; Meigs, James B JB; Scott, Robert A RA; Goodarzi, Mark O MO
Publication Date: 2015-01-29

Variant appearance in text: G6PC2: S324P; rs2232326
PubMed Link: 25631608
Variant Present in the following documents:
  • Main text
  • ncomms6897-s6.xlsx, sheet 1
  • ncomms6897-s7.xlsx, sheet 1
  • ncomms6897.pdf
  • ncomms6897-s1.pdf
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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

Plos Genetics
Mahajan, Anubha A; Sim, Xueling X; Ng, Hui Jin HJ; Manning, Alisa A; Rivas, Manuel A MA; Highland, Heather M HM; Locke, Adam E AE; Grarup, Niels N; Im, Hae Kyung HK; Cingolani, Pablo P; Flannick, Jason J; Fontanillas, Pierre P; Fuchsberger, Christian C; Gaulton, Kyle J KJ; Teslovich, Tanya M TM; Rayner, N William NW; Robertson, Neil R NR; Beer, Nicola L NL; Rundle, Jana K JK; Bork-Jensen, Jette J; Ladenvall, Claes C; Blancher, Christine C; Buck, David D; Buck, Gemma G; Burtt, Noël P NP; Gabriel, Stacey S; Gjesing, Anette P AP; Groves, Christopher J CJ; Hollensted, Mette M; Huyghe, Jeroen R JR; Jackson, Anne U AU; Jun, Goo G; Justesen, Johanne Marie JM; Mangino, Massimo M; Murphy, Jacquelyn J; Neville, Matt M; Onofrio, Robert R; Small, Kerrin S KS; Stringham, Heather M HM; Syvänen, Ann-Christine AC; Trakalo, Joseph J; Abecasis, Goncalo G; Bell, Graeme I GI; Blangero, John J; Cox, Nancy J NJ; Duggirala, Ravindranath R; Hanis, Craig L CL; Seielstad, Mark M; Wilson, James G JG; Christensen, Cramer C; Brandslund, Ivan I; Rauramaa, Rainer R; Surdulescu, Gabriela L GL; Doney, Alex S F AS; Lannfelt, Lars L; Linneberg, Allan A; Isomaa, Bo B; Tuomi, Tiinamaija T; Jørgensen, Marit E ME; Jørgensen, Torben T; Kuusisto, Johanna J; Uusitupa, Matti M; Salomaa, Veikko V; Spector, Timothy D TD; Morris, Andrew D AD; Palmer, Colin N A CN; Collins, Francis S FS; Mohlke, Karen L KL; Bergman, Richard N RN; Ingelsson, Erik E; Lind, Lars L; Tuomilehto, Jaakko J; Hansen, Torben T; Watanabe, Richard M RM; Prokopenko, Inga I; Dupuis, Josee J; Karpe, Fredrik F; Groop, Leif L; Laakso, Markku M; Pedersen, Oluf O; Florez, Jose C JC; Morris, Andrew P AP; Altshuler, David D; Meigs, James B JB; Boehnke, Michael M; McCarthy, Mark I MI; Lindgren, Cecilia M CM; Gloyn, Anna L AL; ,
Publication Date: 2015-01

Variant appearance in text: G6PC2: Ser324Pro
PubMed Link: 25625282
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: G6PC2: S324P; rs2232326
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 38
View BVdb publication page