SULT1A2 c.704A>C ;(p.N235T)

Variant ID: 16-28603655-T-G

NM_001054.3(SULT1A2):c.704A>C;(p.N235T)

This variant was identified in 46 publications

View GRCh38 version.




Publications:


Association of SULT1A2 rs1059491 with obesity and dyslipidaemia in southern Chinese adults.

Scientific Reports
Lv, Hai-Yan HY; Shi, Guifeng G; Li, Cai C; Ye, Ya-Fei YF; Chen, Ya-Hong YH; Chen, Li-Hua LH; Tung, Tao-Hsin TH; Zhang, Meixian M
Publication Date: 2023-05-04

Variant appearance in text: SULT1A2: Asn235Thr; rs1059491
PubMed Link: 37142702
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_34296.pdf
View BVdb publication page



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: SULT1A2: N235T
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: SULT1A2: N235T
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: SULT1A2: 704A>C; Asn235Thr
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SULT1A2: N235T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: SULT1A2: 704A>C; N235T; rs1059491
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SULT1A2: 704A>C; N235T; rs1059491
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: SULT1A2: 704A>C; N235T; rs1059491
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Polygenic risk score for alcohol drinking behavior improves prediction of inflammatory bowel disease risk.

Human Molecular Genetics
Di Narzo, Antonio F AF; Hart, Amy A; Kosoy, Roman R; Peters, Lauren L; Stojmirovic, Aleksandar A; Cheng, Haoxiang H; Zhang, Zhongyang Z; Shan, Mingxu M; Cho, Judy J; Kasarskis, Andrew A; Argmann, Carmen C; Peter, Inga I; Schadt, Eric E EE; Hao, Ke K
Publication Date: 2021-04-30

Variant appearance in text: rs1059491
PubMed Link: 33601420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: SULT1A2: 704A>C; N235T; rs1059491
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports
Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B
Publication Date: 2020-09-01

Variant appearance in text: SULT1A2: 704A>C; Asn235Thr
PubMed Link: 32873813
Variant Present in the following documents:
  • 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: SULT1A2: 704A>C; N235T; rs1059491
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn's Disease in Japanese Populations.

Scientific Reports
Kakuta, Yoichi Y; Ichikawa, Ryo R; Fuyuno, Yuta Y; Hirano, Atsushi A; Umeno, Junji J; Torisu, Takehiro T; Watanabe, Kazuhiro K; Asakura, Akihiro A; Nakano, Takeru T; Izumiyama, Yasuhiro Y; Okamoto, Daisuke D; Naito, Takeo T; Moroi, Rintaro R; Kuroha, Masatake M; Kanazawa, Yoshitake Y; Kimura, Tomoya T; Shiga, Hisashi H; Naito, Takeshi T; Esaki, Motohiro M; Kawai, Yosuke Y; Tokunaga, Katsushi K; Nakamura, Minoru M; Matsumoto, Takayuki T; Nagasaki, Masao M; Kinouchi, Yoshitaka Y; Unno, Michiaki M; Masamune, Atsushi A
Publication Date: 2020-06-24

Variant appearance in text: SULT1A2: Asn235Thr
PubMed Link: 32581322
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_66951.pdf
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: SULT1A2: N235T
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: rs1059491
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



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: SULT1A2: N235T; rs1059491
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 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: SULT1A2: N235T; rs1059491
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: SULT1A2: 704A>C; Asn235Thr; rs1059491
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: SULT1A2: N235T
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.

Bmc Medical Genetics
Liu, Qiuli Q; Tong, Dali D; Xu, Jing J; Yang, Xingxia X; Yi, Yuting Y; Zhang, Dianzheng D; Wang, Luofu L; Zhang, Jun J; Zhang, Yao Y; Li, Yaoming Y; Chang, Lianpeng L; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Jiang, Jun J
Publication Date: 2018-03-27

Variant appearance in text: SULT1A2: 704A>C; N235T
PubMed Link: 29587644
Variant Present in the following documents:
  • 12881_2018_564_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs1059491
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017

Variant appearance in text: SULT1A2: 704A>C; Asn235Thr
PubMed Link: 28472130
Variant Present in the following documents:
  • pone.0176516.s002.xlsx, sheet 1
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: SULT1A2: Asn235Thr; rs1059491
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility.

Journal Of Immunology (Baltimore, Md. : 1950)
Ram, Ramesh R; Mehta, Munish M; Nguyen, Quang T QT; Larma, Irma I; Boehm, Bernhard O BO; Pociot, Flemming F; Concannon, Patrick P; Morahan, Grant G
Publication Date: 2016-04-01

Variant appearance in text: rs1059491
PubMed Link: 26912320
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1059491
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Fine Mapping of a GWAS-Derived Obesity Candidate Region on Chromosome 16p11.2.

Plos One
Volckmar, Anna-Lena AL; Song, Jie-Yun JY; Jarick, Ivonne I; Pütter, Carolin C; Göbel, Maria M; Horn, Lucie L; Struve, Christoph C; Haas, Katharina K; Knoll, Nadja N; Grallert, Harald H; Illig, Thomas T; Reinehr, Thomas T; Wang, Hai-Jun HJ; Hebebrand, Johannes J; Hinney, Anke A
Publication Date: 2015

Variant appearance in text: SULT1A2: Asn235Thr; rs1059491
PubMed Link: 25955518
Variant Present in the following documents:
  • Main text
  • pone.0125660.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs1059491
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
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: rs1059491
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: SULT1A2: N235T; rs1059491
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: SULT1A2: N235T; rs1059491
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs1059491
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology
Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N
Publication Date: 2013-11

Variant appearance in text: rs1059491
PubMed Link: 23633020
Variant Present in the following documents:
  • jid2013196x1.pdf
View BVdb publication page



Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta-analysis.

Plos One
Zhang, Chun C; Li, Jian-Ping JP; Lv, Guo-Qiang GQ; Yu, Xian-Min XM; Gu, Yuan-Long YL; Zhou, Ping P
Publication Date: 2011

Variant appearance in text: SULT1A2: N235T
PubMed Link: 21695180
Variant Present in the following documents:
  • Main text
  • pone.0019127.pdf
View BVdb publication page



Novel pathway analysis of genomic polymorphism-cancer risk interaction in the Breast Cancer Prevention Trial.

International Journal Of Molecular Epidemiology And Genetics
Dunn, Barbara K BK; Greene, Mark H MH; Kelley, Jenny M JM; Costantino, Joseph P JP; Clifford, Robert J RJ; Hu, Ying Y; Tang, Gong G; Kazerouni, Neely N; Rosenberg, Philip S PS; Meerzaman, Daoud M DM; Buetow, Kenneth H KH
Publication Date: 2010

Variant appearance in text: SULT1A2: Asn235Thr
PubMed Link: 21152245
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Nature Genetics
Speliotes, Elizabeth K EK; Willer, Cristen J CJ; Berndt, Sonja I SI; Monda, Keri L KL; Thorleifsson, Gudmar G; Jackson, Anne U AU; Lango Allen, Hana H; Lindgren, Cecilia M CM; Luan, Jian'an J; Mägi, Reedik R; Randall, Joshua C JC; Vedantam, Sailaja S; Winkler, Thomas W TW; Qi, Lu L; Workalemahu, Tsegaselassie T; Heid, Iris M IM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Weedon, Michael N MN; Wheeler, Eleanor E; Wood, Andrew R AR; Ferreira, Teresa T; Weyant, Robert J RJ; Segrè, Ayellet V AV; Estrada, Karol K; Liang, Liming L; Nemesh, James J; Park, Ju-Hyun JH; Gustafsson, Stefan S; Kilpeläinen, Tuomas O TO; Yang, Jian J; Bouatia-Naji, Nabila N; Esko, Tõnu T; Feitosa, Mary F MF; Kutalik, Zoltán Z; Mangino, Massimo M; Raychaudhuri, Soumya S; Scherag, Andre A; Smith, Albert Vernon AV; Welch, Ryan R; Zhao, Jing Hua JH; Aben, Katja K KK; Absher, Devin M DM; Amin, Najaf N; Dixon, Anna L AL; Fisher, Eva E; Glazer, Nicole L NL; Goddard, Michael E ME; Heard-Costa, Nancy L NL; Hoesel, Volker V; Hottenga, Jouke-Jan JJ; Johansson, Asa A; Johnson, Toby T; Ketkar, Shamika S; Lamina, Claudia C; Li, Shengxu S; Moffatt, Miriam F MF; Myers, Richard H RH; Narisu, Narisu N; Perry, John R B JR; Peters, Marjolein J MJ; Preuss, Michael M; Ripatti, Samuli S; Rivadeneira, Fernando F; Sandholt, Camilla C; Scott, Laura J LJ; Timpson, Nicholas J NJ; Tyrer, Jonathan P JP; van Wingerden, Sophie S; Watanabe, Richard M RM; White, Charles C CC; Wiklund, Fredrik F; Barlassina, Christina C; Chasman, Daniel I DI; Cooper, Matthew N MN; Jansson, John-Olov JO; Lawrence, Robert W RW; Pellikka, Niina N; Prokopenko, Inga I; Shi, Jianxin J; Thiering, Elisabeth E; Alavere, Helene H; Alibrandi, Maria T S MT; Almgren, Peter P; Arnold, Alice M AM; Aspelund, Thor T; Atwood, Larry D LD; Balkau, Beverley B; Balmforth, Anthony J AJ; Bennett, Amanda J AJ; Ben-Shlomo, Yoav Y; Bergman, Richard N RN; Bergmann, Sven S; Biebermann, Heike H; Blakemore, Alexandra I F AI; Boes, Tanja T; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Brown, Morris J MJ; Buchanan, Thomas A TA; Busonero, Fabio F; Campbell, Harry H; Cappuccio, Francesco P FP; Cavalcanti-Proença, Christine C; Chen, Yii-Der Ida YD; Chen, Chih-Mei CM; Chines, Peter S PS; Clarke, Robert R; Coin, Lachlan L; Connell, John J; Day, Ian N M IN; den Heijer, Martin M; Duan, Jubao J; Ebrahim, Shah S; Elliott, Paul P; Elosua, Roberto R; Eiriksdottir, Gudny G; Erdos, Michael R MR; Eriksson, Johan G JG; Facheris, Maurizio F MF; Felix, Stephan B SB; Fischer-Posovszky, Pamela P; Folsom, Aaron R AR; Friedrich, Nele N; Freimer, Nelson B NB; Fu, Mao M; Gaget, Stefan S; Gejman, Pablo V PV; Geus, Eco J C EJ; Gieger, Christian C; Gjesing, Anette P AP; Goel, Anuj A; Goyette, Philippe P; Grallert, Harald H; Grässler, Jürgen J; Greenawalt, Danielle M DM; Groves, Christopher J CJ; Gudnason, Vilmundur V; Guiducci, Candace C; Hartikainen, Anna-Liisa AL; Hassanali, Neelam N; Hall, Alistair S AS; Havulinna, Aki S AS; Hayward, Caroline C; Heath, Andrew C AC; Hengstenberg, Christian C; Hicks, Andrew A AA; Hinney, Anke A; Hofman, Albert A; Homuth, Georg G; Hui, Jennie J; Igl, Wilmar W; Iribarren, Carlos C; Isomaa, Bo B; Jacobs, Kevin B KB; Jarick, Ivonne I; Jewell, Elizabeth E; John, Ulrich U; Jørgensen, Torben T; Jousilahti, Pekka P; Jula, Antti A; Kaakinen, Marika M; Kajantie, Eero E; Kaplan, Lee M LM; Kathiresan, Sekar S; Kettunen, Johannes J; Kinnunen, Leena L; Knowles, Joshua W JW; Kolcic, Ivana I; König, Inke R IR; Koskinen, Seppo S; Kovacs, Peter P; Kuusisto, Johanna J; Kraft, Peter P; Kvaløy, Kirsti K; Laitinen, Jaana J; Lantieri, Olivier O; Lanzani, Chiara C; Launer, Lenore J LJ; Lecoeur, Cecile C; Lehtimäki, Terho T; Lettre, Guillaume G; Liu, Jianjun J; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Luben, Robert N RN; Ludwig, Barbara B; , ; Manunta, Paolo P; Marek, Diana D; Marre, Michel M; Martin, Nicholas G NG; McArdle, Wendy L WL; McCarthy, Anne A; McKnight, Barbara B; Meitinger, Thomas T; Melander, Olle O; Meyre, David D; Midthjell, Kristian K; Montgomery, Grant W GW; Morken, Mario A MA; Morris, Andrew P AP; Mulic, Rosanda R; Ngwa, Julius S JS; Nelis, Mari M; Neville, Matt J MJ; Nyholt, Dale R DR; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Ong, Ken K KK; Oostra, Ben B; Paré, Guillaume G; Parker, Alex N AN; Perola, Markus M; Pichler, Irene I; Pietiläinen, Kirsi H KH; Platou, Carl G P CG; Polasek, Ozren O; Pouta, Anneli A; Rafelt, Suzanne S; Raitakari, Olli O; Rayner, Nigel W NW; Ridderstråle, Martin M; Rief, Winfried W; Ruokonen, Aimo A; Robertson, Neil R NR; Rzehak, Peter P; Salomaa, Veikko V; Sanders, Alan R AR; Sandhu, Manjinder S MS; Sanna, Serena S; Saramies, Jouko J; Savolainen, Markku J MJ; Scherag, Susann S; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Silander, Kaisa K; Sinisalo, Juha J; Siscovick, David S DS; Smit, Jan H JH; Soranzo, Nicole N; Sovio, Ulla U; Stephens, Jonathan J; Surakka, Ida I; Swift, Amy J AJ; Tammesoo, Mari-Liis ML; Tardif, Jean-Claude JC; Teder-Laving, Maris M; Teslovich, Tanya M TM; Thompson, John R JR; Thomson, Brian B; Tönjes, Anke A; Tuomi, Tiinamaija T; van Meurs, Joyce B J JB; van Ommen, Gert-Jan GJ; Vatin, Vincent V; Viikari, Jorma J; Visvikis-Siest, Sophie S; Vitart, Veronique V; Vogel, Carla I G CI; Voight, Benjamin F BF; Waite, Lindsay L LL; Wallaschofski, Henri H; Walters, G Bragi GB; Widen, Elisabeth E; Wiegand, Susanna S; Wild, Sarah H SH; Willemsen, Gonneke G; Witte, Daniel R DR; Witteman, Jacqueline C JC; Xu, Jianfeng J; Zhang, Qunyuan Q; Zgaga, Lina L; Ziegler, Andreas A; Zitting, Paavo P; Beilby, John P JP; Farooqi, I Sadaf IS; Hebebrand, Johannes J; Huikuri, Heikki V HV; James, Alan L AL; Kähönen, Mika M; Levinson, Douglas F DF; Macciardi, Fabio F; Nieminen, Markku S MS; Ohlsson, Claes C; Palmer, Lyle J LJ; Ridker, Paul M PM; Stumvoll, Michael M; Beckmann, Jacques S JS; Boeing, Heiner H; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Collins, Francis S FS; Cupples, L Adrienne LA; Smith, George Davey GD; Erdmann, Jeanette J; Froguel, Philippe P; Grönberg, Henrik H; Gyllensten, Ulf U; Hall, Per P; Hansen, Torben T; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayes, Richard B RB; Heinrich, Joachim J; Hu, Frank B FB; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Karpe, Fredrik F; Khaw, Kay-Tee KT; Kiemeney, Lambertus A LA; Krude, Heiko H; Laakso, Markku M; Lawlor, Debbie A DA; Metspalu, Andres A; Munroe, Patricia B PB; Ouwehand, Willem H WH; Pedersen, Oluf O; Penninx, Brenda W BW; Peters, Annette A; Pramstaller, Peter P PP; Quertermous, Thomas T; Reinehr, Thomas T; Rissanen, Aila A; Rudan, Igor I; Samani, Nilesh J NJ; Schwarz, Peter E H PE; Shuldiner, Alan R AR; Spector, Timothy D TD; Tuomilehto, Jaakko J; Uda, Manuela M; Uitterlinden, André A; Valle, Timo T TT; Wabitsch, Martin M; Waeber, Gérard G; Wareham, Nicholas J NJ; Watkins, Hugh H; , ; Wilson, James F JF; Wright, Alan F AF; Zillikens, M Carola MC; Chatterjee, Nilanjan N; McCarroll, Steven A SA; Purcell, Shaun S; Schadt, Eric E EE; Visscher, Peter M PM; Assimes, Themistocles L TL; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Groop, Leif C LC; Haritunians, Talin T; Hunter, David J DJ; Kaplan, Robert C RC; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Peltonen, Leena L; Schlessinger, David D; Strachan, David P DP; van Duijn, Cornelia M CM; Wichmann, H-Erich HE; Frayling, Timothy M TM; Thorsteinsdottir, Unnur U; Abecasis, Gonçalo R GR; Barroso, Inês I; Boehnke, Michael M; Stefansson, Kari K; North, Kari E KE; McCarthy, Mark I MI; Hirschhorn, Joel N JN; Ingelsson, Erik E; Loos, Ruth J F RJ
Publication Date: 2010-11

Variant appearance in text: rs1059491
PubMed Link: 20935630
Variant Present in the following documents:
  • NIHMS237282-supplement-1.pdf
View BVdb publication page



Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

Bmc Cancer
Küry, Sébastien S; Buecher, Bruno B; Robiou-du-Pont, Sébastien S; Scoul, Catherine C; Colman, Hélène H; Le Neel, Tanguy T; Le Houérou, Claire C; Faroux, Roger R; Ollivry, Jean J; Lafraise, Bernard B; Chupin, Louis-Dominique LD; Sébille, Véronique V; Bézieau, Stéphane S
Publication Date: 2008-11-07

Variant appearance in text: SULT1A2: Asn235Thr; rs1059491
PubMed Link: 18992148
Variant Present in the following documents:
  • Main text
  • 1471-2407-8-326.pdf
  • 1471-2407-8-326-S3.xls, sheet 1
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: SULT1A2: N235T; rs1059491
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page