SULT2A1 c.136+16C>T

Variant ID: 19-48389363-G-A

NM_003167.3(SULT2A1):c.136+16C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: rs296361
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs296361
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.

Nature Communications
Dixon, Peter H PH; Levine, Adam P AP; Cebola, Inês I; Chan, Melanie M Y MMY; Amin, Aliya S AS; Aich, Anshul A; Mozere, Monika M; Maude, Hannah H; Mitchell, Alice L AL; Zhang, Jun J; , ; , ; Chambers, Jenny J; Syngelaki, Argyro A; Donnelly, Jennifer J; Cooley, Sharon S; Geary, Michael M; Nicolaides, Kypros K; Thorsell, Malin M; Hague, William M WM; Estiu, Maria Cecilia MC; Marschall, Hanns-Ulrich HU; Gale, Daniel P DP; Williamson, Catherine C
Publication Date: 2022-08-17

Variant appearance in text: rs296361
PubMed Link: 35977952
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29931.pdf
View BVdb publication page



Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Publication Date: 2020-04

Variant appearance in text: rs296361
PubMed Link: 31884074
Variant Present in the following documents:
  • Main text
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: rs296361
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Ontogeny of Hepatic Sulfotransferases and Prediction of Age-Dependent Fractional Contribution of Sulfation in Acetaminophen Metabolism.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Ladumor, Mayur K MK; Bhatt, Deepak Kumar DK; Gaedigk, Andrea A; Sharma, Sheena S; Thakur, Aarzoo A; Pearce, Robin E RE; Leeder, J Steven JS; Bolger, Michael B MB; Singh, Saranjit S; Prasad, Bhagwat B
Publication Date: 2019-08

Variant appearance in text: rs296361
PubMed Link: 31101678
Variant Present in the following documents:
  • Main text
View BVdb publication page



A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Frontiers In Genetics
Klein, Kathrin K; Tremmel, Roman R; Winter, Stefan S; Fehr, Sarah S; Battke, Florian F; Scheurenbrand, Tim T; Schaeffeler, Elke E; Biskup, Saskia S; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2019

Variant appearance in text: rs296361
PubMed Link: 30766545
Variant Present in the following documents:
  • Main text
  • fgene-10-00007.pdf
View BVdb publication page



Polymorphic Human Sulfotransferase 2A1 Mediates the Formation of 25-Hydroxyvitamin D3-3-O-Sulfate, a Major Circulating Vitamin D Metabolite in Humans.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Wong, Timothy T; Wang, Zhican Z; Chapron, Brian D BD; Suzuki, Mizuki M; Claw, Katrina G KG; Gao, Chunying C; Foti, Robert S RS; Prasad, Bhagwat B; Chapron, Alenka A; Calamia, Justina J; Chaudhry, Amarjit A; Schuetz, Erin G EG; Horst, Ronald L RL; Mao, Qingcheng Q; de Boer, Ian H IH; Thornton, Timothy A TA; Thummel, Kenneth E KE
Publication Date: 2018-04

Variant appearance in text: rs296361
PubMed Link: 29343609
Variant Present in the following documents:
  • Main text
View BVdb publication page