SLC16A1 c.1470T>A ;(p.D490E)

Variant ID: 1-113456546-A-T

NM_003051.3(SLC16A1):c.1470T>A;(p.D490E)

This variant was identified in 90 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: SLC16A1: D490E
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Prognostic Value of Monocarboxylate Transporter 1 Overexpression in Cancer: A Systematic Review.

International Journal Of Molecular Sciences
Silva, Ana A; Cerqueira, Mónica Costa MC; Rosa, Beatriz B; Sobral, Catarina C; Pinto-Ribeiro, Filipa F; Costa, Marta Freitas MF; Baltazar, Fátima F; Afonso, Julieta J
Publication Date: 2023-03-07

Variant appearance in text: rs1049434
PubMed Link: 36982217
Variant Present in the following documents:
  • Main text
  • ijms-24-05141.pdf
View BVdb publication page



Association between ACTN3 R577x and the physical performance of Chinese 13 to 15-year-old elite and sub-elite football players at different positions.

Frontiers In Genetics
Yang, Shidong S; Lin, Wentao W; Jia, Mengmeng M; Chen, Haichun H
Publication Date: 2023

Variant appearance in text: rs1049434
PubMed Link: 36968581
Variant Present in the following documents:
  • fgene-14-1038075.pdf
View BVdb publication page



OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research
Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X
Publication Date: 2023-03-24

Variant appearance in text: SLC16A1: Asp490Glu
PubMed Link: 36961377
Variant Present in the following documents:
  • pr3c00054_si_002.xlsx, sheet 2
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: SLC16A1: D490E; rs1049434
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Importance of lactate dehydrogenase (LDH) and monocarboxylate transporters (MCTs) in cancer cells.

Health Science Reports
Hatami, Hamed H; Sajedi, Atefe A; Mir, Seyed Mostafa SM; Memar, Mohammad Yousef MY
Publication Date: 2023-01

Variant appearance in text: rs1049434
PubMed Link: 36570342
Variant Present in the following documents:
  • Main text
  • HSR2-6-e996.pdf
View BVdb publication page



Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players.

Frontiers In Genetics
Maestro, Antonio A; Del Coso, Juan J; Aguilar-Navarro, Millán M; Gutiérrez-Hellín, Jorge J; Morencos, Esther E; Revuelta, Gonzalo G; Ruiz Casares, Eva E; Perucho, Teresa T; Varillas-Delgado, David D
Publication Date: 2022

Variant appearance in text: rs1049434
PubMed Link: 36468031
Variant Present in the following documents:
  • fgene-13-1035899.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: SLC16A1: D490E; rs1049434
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic Variations between Youth and Professional Development Phase English Academy Football Players.

Genes
McAuley, Alexander B T ABT; Hughes, David C DC; Tsaprouni, Loukia G LG; Varley, Ian I; Suraci, Bruce B; Baker, Joseph J; Herbert, Adam J AJ; Kelly, Adam L AL
Publication Date: 2022-11-01

Variant appearance in text: rs1049434
PubMed Link: 36360238
Variant Present in the following documents:
  • genes-13-02001.pdf
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: SLC16A1: 1470T>A; Asp490Glu
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: SLC16A1: 1470T>A; Asp490Glu; rs1049434
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.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: SLC16A1: D490E
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Current perspectives on interethnic variability in multiple myeloma: Single cell technology, population pharmacogenetics and molecular signal transduction.

Translational Oncology
Gandhi, Manav M; Bakhai, Viral V; Trivedi, Jash J; Mishra, Adarsh A; De Andrés, Fernando F; LLerena, Adrián A; Sharma, Rohit R; Nair, Sujit S
Publication Date: 2022-11

Variant appearance in text: rs1049434
PubMed Link: 36103755
Variant Present in the following documents:
  • Main text
  • main.pdf
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: SLC16A1: D490E; rs1049434
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



Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.

Nature Communications
Young, William J WJ; Lahrouchi, Najim N; Isaacs, Aaron A; Duong, ThuyVy T; Foco, Luisa L; Ahmed, Farah F; Brody, Jennifer A JA; Salman, Reem R; Noordam, Raymond R; Benjamins, Jan-Walter JW; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Repetto, Linda L; Concas, Maria Pina MP; van den Berg, Marten E ME; Weiss, Stefan S; Baldassari, Antoine R AR; Bartz, Traci M TM; Cook, James P JP; Evans, Daniel S DS; Freudling, Rebecca R; Hines, Oliver O; Isaksen, Jonas L JL; Lin, Honghuang H; Mei, Hao H; Moscati, Arden A; Müller-Nurasyid, Martina M; Nursyifa, Casia C; Qian, Yong Y; Richmond, Anne A; Roselli, Carolina C; Ryan, Kathleen A KA; Tarazona-Santos, Eduardo E; Thériault, Sébastien S; van Duijvenboden, Stefan S; Warren, Helen R HR; Yao, Jie J; Raza, Dania D; Aeschbacher, Stefanie S; Ahlberg, Gustav G; Alonso, Alvaro A; Andreasen, Laura L; Bis, Joshua C JC; Boerwinkle, Eric E; Campbell, Archie A; Catamo, Eulalia E; Cocca, Massimiliano M; Cutler, Michael J MJ; Darbar, Dawood D; De Grandi, Alessandro A; De Luca, Antonio A; Ding, Jun J; Ellervik, Christina C; Ellinor, Patrick T PT; Felix, Stephan B SB; Froguel, Philippe P; Fuchsberger, Christian C; Gögele, Martin M; Graff, Claus C; Graff, Mariaelisa M; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Huang, Paul L PL; Huikuri, Heikki V HV; Hutri-Kähönen, Nina N; Ikram, M Arfan MA; Jackson, Rebecca D RD; Junttila, Juhani J; Kavousi, Maryam M; Kors, Jan A JA; Leal, Thiago P TP; Lemaitre, Rozenn N RN; Lin, Henry J HJ; Lind, Lars L; Linneberg, Allan A; Liu, Simin S; MacFarlane, Peter W PW; Mangino, Massimo M; Meitinger, Thomas T; Mezzavilla, Massimo M; Mishra, Pashupati P PP; Mitchell, Rebecca N RN; Mononen, Nina N; Montasser, May E ME; Morrison, Alanna C AC; Nauck, Matthias M; Nauffal, Victor V; Navarro, Pau P; Nikus, Kjell K; Pare, Guillaume G; Patton, Kristen K KK; Pelliccione, Giulia G; Pittman, Alan A; Porteous, David J DJ; Pramstaller, Peter P PP; Preuss, Michael H MH; Raitakari, Olli T OT; Reiner, Alexander P AP; Ribeiro, Antonio Luiz P ALP; Rice, Kenneth M KM; Risch, Lorenz L; Schlessinger, David D; Schotten, Ulrich U; Schurmann, Claudia C; Shen, Xia X; Shoemaker, M Benjamin MB; Sinagra, Gianfranco G; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Stoll, Monika M; Strauch, Konstantin K; Tarasov, Kirill K; Taylor, Kent D KD; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Weng, Lu-Chen LC; Whitsel, Eric A EA; Wilson, James G JG; Avery, Christy L CL; Conen, David D; Correa, Adolfo A; Cucca, Francesco F; Dörr, Marcus M; Gharib, Sina A SA; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jamshidi, Yalda Y; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kääb, Stefan S; Kähönen, Mika M; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lima-Costa, Maria Fernanda MF; Liu, Yongmei Y; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Morris, Andrew P AP; O'Connell, Jeffrey R JR; Olesen, Morten Salling MS; Orini, Michele M; Padmanabhan, Sandosh S; Pattaro, Cristian C; Peters, Annette A; Psaty, Bruce M BM; Rotter, Jerome I JI; Stricker, Bruno B; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James F JF; Arking, Dan E DE; Ramirez, Julia J; Lambiase, Pier D PD; Sotoodehnia, Nona N; Mifsud, Borbala B; Newton-Cheh, Christopher C; Munroe, Patricia B PB
Publication Date: 2022-09-01

Variant appearance in text: SLC16A1: 1470T>A; Asp490Glu; rs1049434
PubMed Link: 36050321
Variant Present in the following documents:
  • 41467_2022_32821_MOESM4_ESM.xlsx, sheet 13
View BVdb publication page



Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.

Cardiology Research And Practice
Yu, Xing X; Fan, Yuxuan Y; Sun, Xiaopeng X; Wang, Xiaojing X; Guo, Qi Q; Fan, Zhiqing Z
Publication Date: 2022

Variant appearance in text: rs1049434
PubMed Link: 36032316
Variant Present in the following documents:
  • 9742071.f1.xlsx, sheet 1
  • CRP2022-9742071.pdf
View BVdb publication page



Pharmacogenetics of taxane-induced neurotoxicity in breast cancer: Systematic review and meta-analysis.

Clinical And Translational Science
Guijosa, Alberto A; Freyria, Ana A; Espinosa-Fernandez, Jose Rodrigo JR; Estrada-Mena, Francisco J FJ; Armenta-Quiroga, Ana Sofía AS; Ortega-Treviño, Maria Fernanda MF; Catalán, Rodrigo R; Antonio-Aguirre, Bani B; Villarreal-Garza, Cynthia C; Perez-Ortiz, Andric C AC
Publication Date: 2022-10

Variant appearance in text: rs1049434
PubMed Link: 35892315
Variant Present in the following documents:
  • Main text
  • CTS-15-2403.pdf
View BVdb publication page



Special Issue "Optimising Interval Training Prescription".

Sports (Basel, Switzerland)
Billaut, François F
Publication Date: 2022-06-02

Variant appearance in text: rs1049434
PubMed Link: 35736827
Variant Present in the following documents:
  • sports-10-00087.pdf
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: SLC16A1: D490E; rs1049434
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes.

Genes
Dzitkowska-Zabielska, Magdalena M; Bojarczuk, Aleksandra A; Borczyk, Małgorzata M; Piechota, Marcin M; Korostyński, Michał M; Adamczyk, Jakub Grzegorz JG; Trybek, Grzegorz G; Massidda, Myosotis M; Cięszczyk, Paweł P
Publication Date: 2022-05-12

Variant appearance in text: rs1049434
PubMed Link: 35627255
Variant Present in the following documents:
  • Main text
  • genes-13-00870.pdf
View BVdb publication page



Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.

European Journal Of Applied Physiology
Varillas-Delgado, David D; Del Coso, Juan J; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Maestro, Antonio A; Morencos, Esther E
Publication Date: 2022-08

Variant appearance in text: rs1049434
PubMed Link: 35428907
Variant Present in the following documents:
  • Main text
  • 421_2022_Article_4945.pdf
View BVdb publication page



Speed and power-related gene polymorphisms associated with playing position in elite soccer players.

Biology Of Sport
Petr, Miroslav M; Thiel, Dan D; Kateřina, Kvapilová K; Brož, Petr P; Malý, Tomáš T; Zahálka, František F; Vostatková, Pavlína P; Wilk, Michal M; Chycki, Jakub J; Stastny, Petr P
Publication Date: 2022-03

Variant appearance in text: rs1049434
PubMed Link: 35309536
Variant Present in the following documents:
  • JBS-39-105333.pdf
View BVdb publication page



Genetic characteristics of competitive swimmers: a review.

Biology Of Sport
Ben-Zaken, Sigal S; Eliakim, Alon A; Nemet, Dan D; Kaufman, Leonid L; Meckel, Yoav Y
Publication Date: 2022-01

Variant appearance in text: rs1049434
PubMed Link: 35173374
Variant Present in the following documents:
  • Main text
  • JBS-39-102868.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: SLC16A1: D490E
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



BSG (CD147) Serum Level and Genetic Variants Are Associated with Overall Survival in Acute Myeloid Leukaemia.

Journal Of Clinical Medicine
Łacina, Piotr P; Butrym, Aleksandra A; Turlej, Eliza E; Stachowicz-Suhs, Martyna M; Wietrzyk, Joanna J; Mazur, Grzegorz G; Bogunia-Kubik, Katarzyna K
Publication Date: 2022-01-10

Variant appearance in text: rs1049434
PubMed Link: 35054026
Variant Present in the following documents:
  • Main text
  • jcm-11-00332.pdf
View BVdb publication page



BSG (CD147) Serum Level and Genetic Variants Are Associated with Overall Survival in Acute Myeloid Leukaemia.

Journal Of Clinical Medicine
Łacina, Piotr P; Butrym, Aleksandra A; Turlej, Eliza E; Stachowicz-Suhs, Martyna M; Wietrzyk, Joanna J; Mazur, Grzegorz G; Bogunia-Kubik, Katarzyna K
Publication Date: 2022-01-10

Variant appearance in text: rs1049434
PubMed Link: 35054026
Variant Present in the following documents:
  • Main text
  • jcm-11-00332.pdf
View BVdb publication page



Genetic basis of elite combat sports athletes: a systematic review.

Biology Of Sport
Youn, Bo-Young BY; Ko, Seong-Gyu SG; Kim, Jee Young JY
Publication Date: 2021-10

Variant appearance in text: rs1049434
PubMed Link: 34937977
Variant Present in the following documents:
  • Main text
  • JBS-38-102864.pdf
View BVdb publication page



Putative Role of MCT1 rs1049434 Polymorphism in High-Intensity Endurance Performance: Concept and Basis to Understand Possible Individualization Stimulus.

Sports (Basel, Switzerland)
Ramírez de la Piscina-Viúdez, Xavier X; Álvarez-Herms, Jesús J; Bonilla, Diego A DA; Castañeda-Babarro, Arkaitz A; Larruskain, Jon J; Díaz-Ramírez, Julen J; Ahmetov, Ildus I II; Martínez-Ascensión, Alex A; Kreider, Richard B RB; Odriozola-Martínez, Adrián A
Publication Date: 2021-10-18

Variant appearance in text: rs1049434
PubMed Link: 34678924
Variant Present in the following documents:
  • Main text
  • sports-09-00143.pdf
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: rs1049434
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake.

Biology Of Sport
Guilherme, João Paulo L F JPLF; Bosnyák, Edit E; Semenova, Ekaterina A EA; Szmodis, Márta M; Griff, Annamária A; Móra, Ákos Á; Almási, Gábor G; Trájer, Emese E; Udvardy, Anna A; Kostryukova, Elena S ES; Borisov, Oleg V OV; Larin, Andrey K AK; Andryushchenko, Liliya B LB; Akimov, Egor B EB; Generozov, Edward V EV; Ahmetov, Ildus I II; Tóth, Miklós M; Junior, Antonio H Lancha AHL
Publication Date: 2021-09

Variant appearance in text: rs1049434
PubMed Link: 34475628
Variant Present in the following documents:
  • Main text
  • JBS-38-101638.pdf
View BVdb publication page



Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review.

Frontiers In Physiology
Appel, Milena M; Zentgraf, Karen K; Krüger, Karsten K; Alack, Katharina K
Publication Date: 2021

Variant appearance in text: rs1049434
PubMed Link: 34366884
Variant Present in the following documents:
  • Main text
  • fphys-12-694411.pdf
View BVdb publication page



Association between MCT1 T1470A polymorphism and climbing status in Polish and Japanese climbers.

Biology Of Sport
Saito, Mika M; Ginszt, Michał M; Massidda, Myosotis M; Cięszczyk, Paweł P; Okamoto, Takanobu T; Majcher, Piotr P; Nakazato, Koichi K; Kikuchi, Naoki N
Publication Date: 2021-06

Variant appearance in text: rs1049434
PubMed Link: 34079167
Variant Present in the following documents:
  • Main text
  • JBS-38-98624.pdf
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: SLC16A1: 1470T>A; D490E; rs1049434
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: SLC16A1: Asp490Glu; rs1049434
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: SLC16A1: 1470T>A; D490E; rs1049434
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Whole Genome Interpretation for a Family of Five.

Frontiers In Genetics
Corpas, Manuel M; Megy, Karyn K; Mistry, Vanisha V; Metastasio, Antonio A; Lehmann, Edmund E
Publication Date: 2021

Variant appearance in text: rs1049434
PubMed Link: 33763108
Variant Present in the following documents:
  • Main text
  • fgene-12-535123.pdf
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: SLC16A1: 1470T>A; D490E; rs1049434
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: SLC16A1: D490E
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: SLC16A1: D490E; rs1049434
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: SLC16A1: D490E
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Solute carrier transporters: the metabolic gatekeepers of immune cells.

Acta Pharmaceutica Sinica. B
Song, Wenxin W; Li, Danyuan D; Tao, Lei L; Luo, Qi Q; Chen, Ligong L
Publication Date: 2020-01

Variant appearance in text: rs1049434
PubMed Link: 31993307
Variant Present in the following documents:
  • Main text
  • main.pdf
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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: SLC16A1: 1470T>A; Asp490Glu
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 8
  • Supplementary_Data2.xlsx, sheet 11
  • Supplementary_Data2.xlsx, sheet 2
View BVdb publication page