ACKR2 c.122T>C ;(p.V41A)

Variant ID: 3-42906116-T-C

NM_001296.4(ACKR2):c.122T>C;(p.V41A)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


The genetic regulation of protein expression in cerebrospinal fluid.

Embo Molecular Medicine
Hansson, Oskar O; Kumar, Atul A; Janelidze, Shorena S; Stomrud, Erik E; Insel, Philip S PS; Blennow, Kaj K; Zetterberg, Henrik H; Fauman, Eric E; Hedman, Åsa K ÅK; Nagle, Michael W MW; Whelan, Christopher D CD; Baird, Denis D; Mälarstig, Anders A; Mattsson-Carlgren, Niklas N
Publication Date: 2022-12-12

Variant appearance in text: rs2228467
PubMed Link: 36504281
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of Atypical Chemokine Receptor D6 (ACKR2) in Physiological and Pathological Conditions; Friend, Foe, or Both?

Frontiers In Immunology
Gowhari Shabgah, Arezoo A; Jadidi-Niaragh, Farhad F; Mohammadi, Hamed H; Ebrahimzadeh, Farnoosh F; Oveisee, Maziar M; Jahanara, Abbas A; Gholizadeh Navashenaq, Jamshid J
Publication Date: 2022

Variant appearance in text: ACKR2: V41A; rs2228467
PubMed Link: 35677043
Variant Present in the following documents:
  • Main text
  • fimmu-13-861931.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: ACKR2: V41A
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



CoffeeProt: an online tool for correlation and functional enrichment of systems genetics data.

Nucleic Acids Research
Molendijk, Jeffrey J; Seldin, Marcus M MM; Parker, Benjamin L BL
Publication Date: 2021-07-02

Variant appearance in text: rs2228467
PubMed Link: 33978718
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of Inflammatory Cytokines as Intermediates in the Pathway from Increased Adiposity to Disease.

Obesity (Silver Spring, Md.)
Kalaoja, Marita M; Corbin, Laura J LJ; Tan, Vanessa Y VY; Ahola-Olli, Ari V AV; Havulinna, Aki S AS; Santalahti, Kristiina K; Pitkänen, Niina N; Lehtimäki, Terho T; Lyytikäinen, Leo-Pekka LP; Raitoharju, Emma E; Seppälä, Ilkka I; Kähönen, Mika M; Ripatti, Samuli S; Palotie, Aarno A; Perola, Markus M; Viikari, Jorma S JS; Jalkanen, Sirpa S; Maksimow, Mikael M; Salomaa, Veikko V; Salmi, Marko M; Raitakari, Olli T OT; Kettunen, Johannes J; Timpson, Nicholas J NJ
Publication Date: 2021-02

Variant appearance in text: rs2228467
PubMed Link: 33491305
Variant Present in the following documents:
  • Main text
  • OBY-29-428-s001.pdf
  • OBY-29-428.pdf
View BVdb publication page



Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth.

Plos Genetics
Wang, Yunpeng Y; Nudel, Ron R; Benros, Michael E ME; Skogstrand, Kristin K; Fishilevich, Simon S; , ; Lancet, Doron D; Sun, Jiangming J; Hougaard, David M DM; Andreassen, Ole A OA; Mortensen, Preben Bo PB; Buil, Alfonso A; Hansen, Thomas F TF; Thompson, Wesley K WK; Werge, Thomas T
Publication Date: 2020-11

Variant appearance in text: rs2228467
PubMed Link: 33227023
Variant Present in the following documents:
  • Main text
  • pgen.1009163.pdf
View BVdb publication page



Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults.

Genome Medicine
Hillary, Robert F RF; Trejo-Banos, Daniel D; Kousathanas, Athanasios A; McCartney, Daniel L DL; Harris, Sarah E SE; Stevenson, Anna J AJ; Patxot, Marion M; Ojavee, Sven Erik SE; Zhang, Qian Q; Liewald, David C DC; Ritchie, Craig W CW; Evans, Kathryn L KL; Tucker-Drob, Elliot M EM; Wray, Naomi R NR; McRae, Allan F AF; Visscher, Peter M PM; Deary, Ian J IJ; Robinson, Matthew R MR; Marioni, Riccardo E RE
Publication Date: 2020-07-08

Variant appearance in text: rs2228467
PubMed Link: 32641083
Variant Present in the following documents:
  • 13073_2020_754_MOESM3_ESM.pdf
View BVdb publication page



Atypical chemokine receptor ACKR2-V41A has decreased CCL2 binding, scavenging, and activation, supporting sustained inflammation and increased Alzheimer's disease risk.

Scientific Reports
Murcia, Josue D Gonzalez JDG; Weinert, Allen A; Freitas, Claudia M Tellez CMT; Arens, Daniel K DK; Ferrel, Meganne N MN; Grose, Julianne H JH; Ridge, Perry G PG; Wilson, Eric E; Kauwe, John S K JSK; Weber, K Scott KS
Publication Date: 2020-05-15

Variant appearance in text: ACKR2: V41A
PubMed Link: 32415244
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_64755.pdf
  • 41598_2020_64755_MOESM1_ESM.pdf
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: ACKR2: V41A
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers.

Scientific Reports
Höglund, Julia J; Rafati, Nima N; Rask-Andersen, Mathias M; Enroth, Stefan S; Karlsson, Torgny T; Ek, Weronica E WE; Johansson, Åsa Å
Publication Date: 2019-11-14

Variant appearance in text: rs2228467
PubMed Link: 31727947
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: ACKR2: V41A; rs2228467
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_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: rs2228467
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
View BVdb publication page



Cross-genetic determination of maternal and neonatal immune mediators during pregnancy.

Genome Medicine
Traglia, Michela M; Croen, Lisa A LA; Jones, Karen L KL; Heuer, Luke S LS; Yolken, Robert R; Kharrazi, Martin M; DeLorenze, Gerald N GN; Ashwood, Paul P; Van de Water, Judy J; Weiss, Lauren A LA
Publication Date: 2018-08-22

Variant appearance in text: rs2228467
PubMed Link: 30134952
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional annotation of Alzheimer's disease associated loci revealed by GWASs.

Plos One
Han, Zengpeng Z; Huang, Han H; Gao, Yue Y; Huang, Qingyang Q
Publication Date: 2017

Variant appearance in text: rs2228467
PubMed Link: 28650998
Variant Present in the following documents:
  • Main text
  • pone.0179677.pdf
View BVdb publication page



Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

American Journal Of Human Genetics
Ahola-Olli, Ari V AV; Würtz, Peter P; Havulinna, Aki S AS; Aalto, Kristiina K; Pitkänen, Niina N; Lehtimäki, Terho T; Kähönen, Mika M; Lyytikäinen, Leo-Pekka LP; Raitoharju, Emma E; Seppälä, Ilkka I; Sarin, Antti-Pekka AP; Ripatti, Samuli S; Palotie, Aarne A; Perola, Markus M; Viikari, Jorma S JS; Jalkanen, Sirpa S; Maksimow, Mikael M; Salomaa, Veikko V; Salmi, Marko M; Kettunen, Johannes J; Raitakari, Olli T OT
Publication Date: 2017-01-05

Variant appearance in text: rs2228467
PubMed Link: 27989323
Variant Present in the following documents:
  • Main text
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: rs2228467
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: ACKR2: V41A; rs2228467
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
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: rs2228467
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs2228467
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
View BVdb publication page



Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.

Plos Genetics
Kauwe, John S K JS; Bailey, Matthew H MH; Ridge, Perry G PG; Perry, Rachel R; Wadsworth, Mark E ME; Hoyt, Kaitlyn L KL; Staley, Lyndsay A LA; Karch, Celeste M CM; Harari, Oscar O; Cruchaga, Carlos C; Ainscough, Benjamin J BJ; Bales, Kelly K; Pickering, Eve H EH; Bertelsen, Sarah S; , ; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; Goate, Alison M AM
Publication Date: 2014-10

Variant appearance in text: rs2228467
PubMed Link: 25340798
Variant Present in the following documents:
  • Main text
  • pgen.1004758.s006.xlsx, sheet 1
  • pgen.1004758.pdf
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: rs2228467
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



eMERGEing progress in genomics-the first seven years.

Frontiers In Genetics
Crawford, Dana C DC; Crosslin, David R DR; Tromp, Gerard G; Kullo, Iftikhar J IJ; Kuivaniemi, Helena H; Hayes, M Geoffrey MG; Denny, Joshua C JC; Bush, William S WS; Haines, Jonathan L JL; Roden, Dan M DM; McCarty, Catherine A CA; Jarvik, Gail P GP; Ritchie, Marylyn D MD
Publication Date: 2014

Variant appearance in text: rs2228467
PubMed Link: 24987407
Variant Present in the following documents:
  • Main text
  • fgene-05-00184.pdf
View BVdb publication page



Genetic variation associated with circulating monocyte count in the eMERGE Network.

Human Molecular Genetics
Crosslin, David R DR; McDavid, Andrew A; Weston, Noah N; Zheng, Xiuwen X; Hart, Eugene E; de Andrade, Mariza M; Kullo, Iftikhar J IJ; McCarty, Catherine A CA; Doheny, Kimberly F KF; Pugh, Elizabeth E; Kho, Abel A; Hayes, M Geoffrey MG; Ritchie, Marylyn D MD; Saip, Alexander A; Crawford, Dana C DC; Crane, Paul K PK; Newton, Katherine K; Carrell, David S DS; Gallego, Carlos J CJ; Nalls, Michael A MA; Li, Rongling R; Mirel, Daniel B DB; Crenshaw, Andrew A; Couper, David J DJ; Tanaka, Toshiko T; van Rooij, Frank J A FJ; Chen, Ming-Huei MH; Smith, Albert V AV; Zakai, Neil A NA; Yango, Qiong Q; Garcia, Melissa M; Liu, Yongmei Y; Lumley, Thomas T; Folsom, Aaron R AR; Reiner, Alex P AP; Felix, Janine F JF; Dehghan, Abbas A; Wilson, James G JG; Bis, Joshua C JC; Fox, Caroline S CS; Glazer, Nicole L NL; Cupples, L Adrienne LA; Coresh, Josef J; Eiriksdottir, Gudny G; Gudnason, Vilmundur V; Bandinelli, Stefania S; Frayling, Timothy M TM; Chakravarti, Aravinda A; van Duijn, Cornelia M CM; Melzer, David D; Levy, Daniel D; Boerwinkle, Eric E; Singleton, Andrew B AB; Hernandez, Dena G DG; Longo, Dan L DL; Witteman, Jacqueline C M JC; Psaty, Bruce M BM; Ferrucci, Luigi L; Harris, Tamara B TB; O'Donnell, Christopher J CJ; Ganesh, Santhi K SK; , ; Larson, Eric B EB; Carlson, Chris S CS; Jarvik, Gail P GP; ,
Publication Date: 2013-05-15

Variant appearance in text: rs2228467
PubMed Link: 23314186
Variant Present in the following documents:
  • Main text
View BVdb publication page