XDH c.2729C>T ;(p.T910M)

Variant ID: 2-31572992-G-A

NM_000379.3(XDH):c.2729C>T;(p.T910M)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: XDH: 2729C>T; rs669884
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase.

Biomedicines
Sekine, Mai M; Okamoto, Ken K; Ichida, Kimiyoshi K
Publication Date: 2021-11-20

Variant appearance in text: XDH: Thr910Met
PubMed Link: 34829959
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01723.pdf
View BVdb publication page



The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Publication Date: 2021

Variant appearance in text: rs669884
PubMed Link: 34721006
Variant Present in the following documents:
  • datasheet1.pdf
View BVdb publication page



Genetic variants associated with diseases in Afghan population.

Molecular Genetics & Genomic Medicine
Zadran, Suleman Khan SK; Ilyas, Muhammad M; Dawari, Shamsia S
Publication Date: 2021-05

Variant appearance in text: rs669884
PubMed Link: 33486863
Variant Present in the following documents:
  • MGG3-9-e1608-s001.xlsx, sheet 1
View BVdb publication page



An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.

Jimd Reports
Peretz, Hava H; Korostishevsky, Michael M; Steinberg, David M DM; Kabha, Mustafa M; Usher, Sali S; Krause, Irit I; Shalev, Hannah H; Landau, Daniel D; Levartovsky, David D
Publication Date: 2020-01

Variant appearance in text: XDH: 2729C>T; Thr910Met
PubMed Link: 32071838
Variant Present in the following documents:
  • Main text
  • JMD2-51-45.pdf
View BVdb publication page



A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase.

Cen Case Reports
Iguchi, Akira A; Sato, Takaaki T; Yamazaki, Mihoko M; Tasaki, Kazuyuki K; Suzuki, Yasushi Y; Iino, Noriaki N; Hasegawa, Hiroshi H; Ichida, Kimiyoshi K; Narita, Ichiei I
Publication Date: 2016-11

Variant appearance in text: XDH: 2729C>T; Thr910Met
PubMed Link: 28508967
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: XDH: T910M
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: XDH: T910M
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
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: rs669884
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: XDH: T910M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



An unusual cause of "pink diaper" in an infant: Answers.

Pediatric Nephrology (Berlin, Germany)
Amin, Rasheda R; Eid, Loai L; Edvardsson, Vidar O VO; Fairbanks, Lynette L; Moudgil, Asha A
Publication Date: 2016-04

Variant appearance in text: XDH: 2729C>T; T910M
PubMed Link: 25823988
Variant Present in the following documents:
  • Main text
View BVdb publication page



An unusual cause of pink diapers in an infant: Questions and Answers.

Pediatric Nephrology (Berlin, Germany)
Amin, Rasheda R; Eid, Loai L; Edvardsson, Vidar O VO; Fairbanks, Lynette L; Moudgil, Asha A
Publication Date: 2016-04

Variant appearance in text: XDH: 2729C>T; T910M
PubMed Link: 25823987
Variant Present in the following documents:
  • Main text
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: rs669884
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
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: rs669884
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: XDH: T910M; rs669884
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page