SLC22A4 c.952-2071A>G

Variant ID: 5-131665378-A-G

NM_003059.2(SLC22A4):c.952-2071A>G

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: rs272889
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.

Communications Biology
Koshiba, Seizo S; Motoike, Ikuko N IN; Saigusa, Daisuke D; Inoue, Jin J; Aoki, Yuichi Y; Tadaka, Shu S; Shirota, Matsuyuki M; Katsuoka, Fumiki F; Tamiya, Gen G; Minegishi, Naoko N; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M
Publication Date: 2020-11-11

Variant appearance in text: rs272889
PubMed Link: 33177615
Variant Present in the following documents:
  • 42003_2020_1383_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Covariate selection for association screening in multiphenotype genetic studies.

Nature Genetics
Aschard, Hugues H; Guillemot, Vincent V; Vilhjalmsson, Bjarni B; Patel, Chirag J CJ; Skurnik, David D; Ye, Chun J CJ; Wolpin, Brian B; Kraft, Peter P; Zaitlen, Noah N
Publication Date: 2017-12

Variant appearance in text: rs272889
PubMed Link: 29038595
Variant Present in the following documents:
  • NIHMS908080-supplement-1.pdf
View BVdb publication page



Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Scientific Reports
Jäger, Susanne S; Wahl, Simone S; Kröger, Janine J; Sharma, Sapna S; Hoffmann, Per P; Floegel, Anna A; Pischon, Tobias T; Prehn, Cornelia C; Adamski, Jerzy J; Müller-Nurasyid, Martina M; Waldenberger, Melanie M; Strauch, Konstantin K; Peters, Annette A; Gieger, Christian C; Suhre, Karsten K; Grallert, Harald H; Boeing, Heiner H; Schulze, Matthias B MB; Meidtner, Karina K
Publication Date: 2017-07-20

Variant appearance in text: rs272889
PubMed Link: 28729637
Variant Present in the following documents:
  • 41598_2017_6158_MOESM1_ESM.pdf
View BVdb publication page



Genotypes of SLC22A4 and SLC22A5 regulatory loci are predictive of the response of chronic myeloid leukemia patients to imatinib treatment.

Journal Of Experimental & Clinical Cancer Research : Cr
Jaruskova, Monika M; Curik, Nikola N; Hercog, Rajna R; Polivkova, Vaclava V; Motlova, Eliska E; Benes, Vladimir V; Klamova, Hana H; Pecherkova, Pavla P; Belohlavkova, Petra P; Vrbacky, Filip F; Machova Polakova, Katerina K
Publication Date: 2017-04-18

Variant appearance in text: rs272889
PubMed Link: 28420426
Variant Present in the following documents:
  • Main text
  • 13046_2017_Article_523.pdf
View BVdb publication page



Whole-Genome Sequencing of a Healthy Aging Cohort.

Cell
Erikson, Galina A GA; Bodian, Dale L DL; Rueda, Manuel M; Molparia, Bhuvan B; Scott, Erick R ER; Scott-Van Zeeland, Ashley A AA; Topol, Sarah E SE; Wineinger, Nathan E NE; Niederhuber, John E JE; Topol, Eric J EJ; Torkamani, Ali A
Publication Date: 2016-05-05

Variant appearance in text: rs272889
PubMed Link: 27114037
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.

Frontiers In Genetics
Namjou, Bahram B; Marsolo, Keith K; Caroll, Robert J RJ; Denny, Joshua C JC; Ritchie, Marylyn D MD; Verma, Shefali S SS; Lingren, Todd T; Porollo, Aleksey A; Cobb, Beth L BL; Perry, Cassandra C; Kottyan, Leah C LC; Rothenberg, Marc E ME; Thompson, Susan D SD; Holm, Ingrid A IA; Kohane, Isaac S IS; Harley, John B JB
Publication Date: 2014

Variant appearance in text: rs272889
PubMed Link: 25477900
Variant Present in the following documents:
  • Main text
  • fgene-05-00401.pdf
View BVdb publication page



Metabolic heritability at birth: implications for chronic disease research.

Human Genetics
Ryckman, Kelli K KK; Smith, Caitlin J CJ; Jelliffe-Pawlowski, Laura L LL; Momany, Allison M AM; Berberich, Stanton L SL; Murray, Jeffrey C JC
Publication Date: 2014-08

Variant appearance in text: rs272889
PubMed Link: 24850141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mapping the genetic architecture of gene regulation in whole blood.

Plos One
Schramm, Katharina K; Marzi, Carola C; Schurmann, Claudia C; Carstensen, Maren M; Reinmaa, Eva E; Biffar, Reiner R; Eckstein, Gertrud G; Gieger, Christian C; Grabe, Hans-Jörgen HJ; Homuth, Georg G; Kastenmüller, Gabriele G; Mägi, Reedik R; Metspalu, Andres A; Mihailov, Evelin E; Peters, Annette A; Petersmann, Astrid A; Roden, Michael M; Strauch, Konstantin K; Suhre, Karsten K; Teumer, Alexander A; Völker, Uwe U; Völzke, Henry H; Wang-Sattler, Rui R; Waldenberger, Melanie M; Meitinger, Thomas T; Illig, Thomas T; Herder, Christian C; Grallert, Harald H; Prokisch, Holger H
Publication Date: 2014

Variant appearance in text: rs272889
PubMed Link: 24740359
Variant Present in the following documents:
  • Main text
  • pone.0093844.pdf
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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations.

Genome Medicine
Robinette, Steven L SL; Holmes, Elaine E; Nicholson, Jeremy K JK; Dumas, Marc E ME
Publication Date: 2012-04-30

Variant appearance in text: rs272889
PubMed Link: 22546284
Variant Present in the following documents:
  • Main text
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: rs272889
PubMed Link: 21931564
Variant Present in the following documents:
  • Main text
  • pgen.1002270.pdf
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Human metabolic individuality in biomedical and pharmaceutical research.

Nature
Suhre, Karsten K; Shin, So-Youn SY; Petersen, Ann-Kristin AK; Mohney, Robert P RP; Meredith, David D; Wägele, Brigitte B; Altmaier, Elisabeth E; , ; Deloukas, Panos P; Erdmann, Jeanette J; Grundberg, Elin E; Hammond, Christopher J CJ; de Angelis, Martin Hrabé MH; Kastenmüller, Gabi G; Köttgen, Anna A; Kronenberg, Florian F; Mangino, Massimo M; Meisinger, Christa C; Meitinger, Thomas T; Mewes, Hans-Werner HW; Milburn, Michael V MV; Prehn, Cornelia C; Raffler, Johannes J; Ried, Janina S JS; Römisch-Margl, Werner W; Samani, Nilesh J NJ; Small, Kerrin S KS; Wichmann, H-Erich HE; Zhai, Guangju G; Illig, Thomas T; Spector, Tim D TD; Adamski, Jerzy J; Soranzo, Nicole N; Gieger, Christian C
Publication Date: 2011-08-31

Variant appearance in text: rs272889
PubMed Link: 21886157
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide perspective of genetic variation in human metabolism.

Nature Genetics
Illig, Thomas T; Gieger, Christian C; Zhai, Guangju G; Römisch-Margl, Werner W; Wang-Sattler, Rui R; Prehn, Cornelia C; Altmaier, Elisabeth E; Kastenmüller, Gabi G; Kato, Bernet S BS; Mewes, Hans-Werner HW; Meitinger, Thomas T; de Angelis, Martin Hrabé MH; Kronenberg, Florian F; Soranzo, Nicole N; Wichmann, H-Erich HE; Spector, Tim D TD; Adamski, Jerzy J; Suhre, Karsten K
Publication Date: 2010-02

Variant appearance in text: rs272889
PubMed Link: 20037589
Variant Present in the following documents:
  • Main text
View BVdb publication page