PYROXD2 c.1382T>C ;(p.M461T)

Variant ID: 10-100148176-A-G

NM_032709.2(PYROXD2):c.1382T>C;(p.M461T)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: PYROXD2: 1382T>C; Met461Thr; rs2147896
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM6_ESM.xlsx, sheet 17
  • 41588_2023_1409_MOESM4_ESM.pdf
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: PYROXD2: 1382T>C; Met461Thr
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: PYROXD2: M461T; rs2147896
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort.

Human Genomics
Lee, In-Hee IH; Smith, Matthew Ryan MR; Yazdani, Azam A; Sandhu, Sumiti S; Walker, Douglas I DI; Mandl, Kenneth D KD; Jones, Dean P DP; Kong, Sek Won SW
Publication Date: 2022-12-08

Variant appearance in text: rs2147896
PubMed Link: 36482414
Variant Present in the following documents:
  • Main text
  • 40246_2022_Article_440.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2147896
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.

The Journal Of Biological Chemistry
Moore, Amy A; Busch, Michael P MP; Dziewulska, Karolina K; Francis, Richard O RO; Hod, Eldad A EA; Zimring, James C JC; D'Alessandro, Angelo A; Page, Grier P GP
Publication Date: 2022-11-14

Variant appearance in text: PYROXD2: M461T
PubMed Link: 36395887
Variant Present in the following documents:
  • Main text
  • main.pdf
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: rs2147896
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_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: rs2147896
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
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: PYROXD2: M461T
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.

Metabolites
Hysi, Pirro G PG; Mangino, Massimo M; Christofidou, Paraskevi P; Falchi, Mario M; Karoly, Edward D ED; Nihr Bioresource Investigators, ; Mohney, Robert P RP; Valdes, Ana M AM; Spector, Tim D TD; Menni, Cristina C
Publication Date: 2022-01-11

Variant appearance in text: rs2147896
PubMed Link: 35050183
Variant Present in the following documents:
  • Main text
  • metabolites-12-00061.pdf
View BVdb publication page



Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.

Metabolites
Hysi, Pirro G PG; Mangino, Massimo M; Christofidou, Paraskevi P; Falchi, Mario M; Karoly, Edward D ED; Nihr Bioresource Investigators, ; Mohney, Robert P RP; Valdes, Ana M AM; Spector, Tim D TD; Menni, Cristina C
Publication Date: 2022-01-11

Variant appearance in text: rs2147896
PubMed Link: 35050183
Variant Present in the following documents:
  • Main text
  • metabolites-12-00061.pdf
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: PYROXD2: M461T; rs2147896
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: PYROXD2: M461T
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, 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: PYROXD2: M461T; rs2147896
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 9
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: PYROXD2: M461T; rs2147896
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
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: PYROXD2: 1382T>C; M461T; rs2147896
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules.

Network And Systems Medicine
Gillenwater, Lucas A LA; Pratte, Katherine A KA; Hobbs, Brian D BD; Cho, Michael H MH; Zhuang, Yonghua Y; Halper-Stromberg, Eitan E; Cruickshank-Quinn, Charmion C; Reisdorph, Nichole N; Petrache, Irina I; Labaki, Wassim W WW; O'Neal, Wanda K WK; Ortega, Victor E VE; Jones, Dean P DP; Uppal, Karan K; Jacobson, Sean S; Michelotti, Gregory G; Wendt, Christine H CH; Kechris, Katerina J KJ; Bowler, Russell P RP
Publication Date: 2020-12-01

Variant appearance in text: rs2147896
PubMed Link: 33987620
Variant Present in the following documents:
  • Main text
  • nsm.2020.0009.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: PYROXD2: Met461Thr; rs2147896
PubMed Link: 33791233
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: PYROXD2: 1382T>C; M461T; rs2147896
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



Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.

Nature Communications
Cheng, Yurong Y; Schlosser, Pascal P; Hertel, Johannes J; Sekula, Peggy P; Oefner, Peter J PJ; Spiekerkoetter, Ute U; Mielke, Johanna J; Freitag, Daniel F DF; Schmidts, Miriam M; , ; Kronenberg, Florian F; Eckardt, Kai-Uwe KU; Thiele, Ines I; Li, Yong Y; Köttgen, Anna A
Publication Date: 2021-02-11

Variant appearance in text: rs2147896
PubMed Link: 33574263
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20877.pdf
View BVdb publication page



Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International
Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2020

Variant appearance in text: PYROXD2: M461T; rs2147896
PubMed Link: 32624706
Variant Present in the following documents:
  • 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.

Nature Genetics
Schlosser, Pascal P; Li, Yong Y; Sekula, Peggy P; Raffler, Johannes J; Grundner-Culemann, Franziska F; Pietzner, Maik M; Cheng, Yurong Y; Wuttke, Matthias M; Steinbrenner, Inga I; Schultheiss, Ulla T UT; Kotsis, Fruzsina F; Kacprowski, Tim T; Forer, Lukas L; Hausknecht, Birgit B; Ekici, Arif B AB; Nauck, Matthias M; Völker, Uwe U; , ; Walz, Gerd G; Oefner, Peter J PJ; Kronenberg, Florian F; Mohney, Robert P RP; Köttgen, Michael M; Suhre, Karsten K; Eckardt, Kai-Uwe KU; Kastenmüller, Gabi G; Köttgen, Anna A
Publication Date: 2020-02

Variant appearance in text: rs2147896
PubMed Link: 31959995
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: PYROXD2: 1382T>C; Met461Thr
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 5
View BVdb publication page



Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.

Molecular Genetics And Metabolism Reports
Stevelink, Remi R; Pangilinan, Faith F; Jansen, Floor E FE; Braun, Kees P J KPJ; , ; Molloy, Anne M AM; Brody, Lawrence C LC; Koeleman, Bobby P C BPC
Publication Date: 2019-12

Variant appearance in text: rs2147896
PubMed Link: 31641590
Variant Present in the following documents:
  • Main text
  • main.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: PYROXD2: M461T; rs2147896
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_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: PYROXD2: M461T; rs2147896
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 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: rs2147896
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: PYROXD2: M461T; rs2147896
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: PYROXD2: 1382T>C; Met461Thr; rs2147896
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

Nature Communications
Yousri, Noha A NA; Fakhro, Khalid A KA; Robay, Amal A; Rodriguez-Flores, Juan L JL; Mohney, Robert P RP; Zeriri, Hassina H; Odeh, Tala T; Kader, Sara Abdul SA; Aldous, Eman K EK; Thareja, Gaurav G; Kumar, Manish M; Al-Shakaki, Alya A; Chidiac, Omar M OM; Mohamoud, Yasmin A YA; Mezey, Jason G JG; Malek, Joel A JA; Crystal, Ronald G RG; Suhre, Karsten K
Publication Date: 2018-01-23

Variant appearance in text: PYROXD2: Met461Thr; rs2147896
PubMed Link: 29362361
Variant Present in the following documents:
  • Main text
  • 41467_2017_1972_MOESM8_ESM.xlsx, sheet 1
  • 41467_2017_1972_MOESM5_ESM.xlsx, sheet 1
  • 41467_2017_Article_1972.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2147896
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

Bmc Medical Genetics
Guo, Yiran Y; Hwang, Liang-Dar LD; Li, Jiankang J; Eades, Jason J; Yu, Chung Wen CW; Mansfield, Corrine C; Burdick-Will, Alexis A; Chang, Xiao X; Chen, Yulan Y; Duke, Fujiko F FF; Zhang, Jianguo J; Fakharzadeh, Steven S; Fennessey, Paul P; Keating, Brendan J BJ; Jiang, Hui H; Hakonarson, Hakon H; Reed, Danielle R DR; Preti, George G
Publication Date: 2017-02-15

Variant appearance in text: PYROXD2: 1382T>C; Met461Thr; rs2147896
PubMed Link: 28196478
Variant Present in the following documents:
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: rs2147896
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: PYROXD2: M461T; rs2147896
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
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: PYROXD2: M461T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: PYROXD2: M461T; rs2147896
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: PYROXD2: M461T
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, 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: PYROXD2: M461T; rs2147896
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: PYROXD2: M461T
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s003.xls, sheet 3
  • pone.0109576.s002.xls, sheet 3
View BVdb publication page



Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.

Plos Genetics
Rueedi, Rico R; Ledda, Mirko M; Nicholls, Andrew W AW; Salek, Reza M RM; Marques-Vidal, Pedro P; Morya, Edgard E; Sameshima, Koichi K; Montoliu, Ivan I; Da Silva, Laeticia L; Collino, Sebastiano S; Martin, François-Pierre FP; Rezzi, Serge S; Steinbeck, Christoph C; Waterworth, Dawn M DM; Waeber, Gérard G; Vollenweider, Peter P; Beckmann, Jacques S JS; Le Coutre, Johannes J; Mooser, Vincent V; Bergmann, Sven S; Genick, Ulrich K UK; Kutalik, Zoltán Z
Publication Date: 2014-02

Variant appearance in text: rs2147896
PubMed Link: 24586186
Variant Present in the following documents:
  • Main text
  • pgen.1004132.pdf
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: PYROXD2: M461T; rs2147896
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2147896
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.

Plos Genetics
Nicholson, George G; Rantalainen, Mattias M; Li, Jia V JV; Maher, Anthony D AD; Malmodin, Daniel D; Ahmadi, Kourosh R KR; Faber, Johan H JH; Barrett, Amy A; Min, Josine L JL; Rayner, N William NW; Toft, Henrik H; Krestyaninova, Maria M; Viksna, Juris J; Neogi, Sudeshna Guha SG; Dumas, Marc-Emmanuel ME; Sarkans, Ugis U; , ; Donnelly, Peter P; Illig, Thomas T; Adamski, Jerzy J; Suhre, Karsten K; Allen, Maxine M; Zondervan, Krina T KT; Spector, Tim D TD; Nicholson, Jeremy K JK; Lindon, John C JC; Baunsgaard, Dorrit D; Holmes, Elaine E; McCarthy, Mark I MI; Holmes, Chris C CC
Publication Date: 2011-09

Variant appearance in text: rs2147896
PubMed Link: 21931564
Variant Present in the following documents:
  • Main text
  • pgen.1002270.pdf
View BVdb publication page