DVL2 c.1604C>T ;(p.T535I)

Variant ID: 17-7129898-G-A

NM_004422.2(DVL2):c.1604C>T;(p.T535I)

This variant was identified in 15 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: DVL2: T535I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: DVL2: T535I
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 6
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Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.

Nature Communications
Pujol-Gualdo, Natàlia N; Läll, Kristi K; Lepamets, Maarja M; , ; Rossi, Henna-Riikka HR; Arffman, Riikka K RK; Piltonen, Terhi T TT; Mägi, Reedik R; Laisk, Triin T
Publication Date: 2022-06-23

Variant appearance in text: rs72839768
PubMed Link: 35739095
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_31188.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: DVL2: T535I; rs72839768
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
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: DVL2: T535I; rs72839768
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: DVL2: T535I; rs72839768
PubMed Link: 34059833
Variant Present in the following documents:
  • EMS120610-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects.

Frontiers In Neuroscience
Baumholtz, Amanda I AI; De Marco, Patrizia P; Capra, Valeria V; Ryan, Aimee K AK
Publication Date: 2020

Variant appearance in text: DVL2: T535I
PubMed Link: 32760237
Variant Present in the following documents:
  • Main text
  • fnins-14-00664.pdf
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: DVL2: 1604C>T; T535I; rs72839768
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_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: DVL2: T535I; rs72839768
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
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: DVL2: T535I; rs72839768
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: rs72839768
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 5
View BVdb publication page



Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics
Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T
Publication Date: 2016-01-07

Variant appearance in text: DVL2: T535I; rs72839768
PubMed Link: 26744305
Variant Present in the following documents:
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 3
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)
van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY
Publication Date: 2015-10

Variant appearance in text: DVL2: 1604C>T; T535I
PubMed Link: 26122175
Variant Present in the following documents:
  • NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 7
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: DVL2: T535I; rs72839768
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
View BVdb publication page



Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.

Journal Of Molecular Neuroscience : Mn
De Marco, Patrizia P; Merello, Elisa E; Consales, Alessandro A; Piatelli, Gianluca G; Cama, Armando A; Kibar, Zoha Z; Capra, Valeria V
Publication Date: 2013-03

Variant appearance in text: DVL2: Thr535Ile; rs72839768
PubMed Link: 22892949
Variant Present in the following documents:
  • Main text
  • 12031_2012_Article_9871.pdf
View BVdb publication page