CR1 c.6031G>A ;(p.V2011M)

Variant ID: 1-207782769-G-A

NM_000651.4(CR1):c.6031G>A;(p.V2011M)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Methodological Appraisal of Literature Concerning the Analysis of Genetic Variants or Protein Levels of Complement Components on Susceptibility to Infection by Trypanosomatids: A Systematic Review.

Frontiers In Immunology
Tirado, Thais Cristina TC; Moura, Larine Lowry LL; Shigunov, Patrícia P; Figueiredo, Fabiano Borges FB
Publication Date: 2021

Variant appearance in text: rs41274768
PubMed Link: 34899745
Variant Present in the following documents:
  • Main text
  • fimmu-12-780810.pdf
View BVdb publication page



Association between ABO and Duffy blood types and circulating chemokines and cytokines.

Genes And Immunity
Van Alsten, Sarah C SC; Aversa, John G JG; Santo, Loredana L; Camargo, M Constanza MC; Kemp, Troy T; Liu, Jia J; Huang, Wen-Yi WY; Sampson, Joshua J; Rabkin, Charles S CS
Publication Date: 2021-07

Variant appearance in text: rs41274768
PubMed Link: 34103707
Variant Present in the following documents:
  • Main text
  • 41435_2021_Article_137.pdf
View BVdb publication page



Association between ABO and Duffy blood types and circulating chemokines and cytokines.

Genes And Immunity
Van Alsten, Sarah C SC; Aversa, John G JG; Santo, Loredana L; Camargo, M Constanza MC; Kemp, Troy T; Liu, Jia J; Huang, Wen-Yi WY; Sampson, Joshua J; Rabkin, Charles S CS
Publication Date: 2021-07

Variant appearance in text: rs41274768
PubMed Link: 34103707
Variant Present in the following documents:
  • Main text
  • 41435_2021_Article_137.pdf
View BVdb publication page



Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: rs41274768
PubMed Link: 32345996
Variant Present in the following documents:
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: CR1: V2011M
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Low-Frequency Blood Group Antigens in Switzerland.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Gassner, Christoph C; Degenhardt, Frauke F; Meyer, Stefan S; Vollmert, Caren C; Trost, Nadine N; Neuenschwander, Kathrin K; Merki, Yvonne Y; Portmann, Claudia C; Sigurdardottir, Sonja S; Zorbas, Antigoni A; Engström, Charlotte C; Gottschalk, Jochen J; Amar El Dusouqui, Soraya S; Waldvogel-Abramovski, Sophie S; Rigal, Emmanuel E; Tissot, Jean-Daniel JD; Tinguely, Caroline C; Mauvais, Simon M SM; Sarraj, Amira A; Bessero, Daniel D; Stalder, Michele M; Infanti, Laura L; Buser, Andreas A; Sigle, Jörg J; Weingand, Tina T; Castelli, Damiano D; Braisch, Monica C MC; Thierbach, Jutta J; Heer, Sonja S; Schulzki, Thomas T; Krawczak, Michael M; Franke, Andre A; Frey, Beat M BM
Publication Date: 2018-07

Variant appearance in text: rs41274768
PubMed Link: 30283273
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impact of Using Genotyped Reagent Red Blood Cells in Antibody Identification.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Scharberg, Erwin E; Rink, Gabi G; Portegys, Jan J; Rothenberger, Sina S; Gillhuber, Nicole N; Richter, Ekkehard E; Bugert, Peter P
Publication Date: 2018-07

Variant appearance in text: rs41274768
PubMed Link: 30283270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human complement receptor type 1 (CR1) protein levels and genetic variants in chronic Chagas Disease.

Scientific Reports
Sandri, Thaisa Lucas TL; Lidani, Kárita Cláudia Freitas KCF; Andrade, Fabiana Antunes FA; Meyer, Christian G CG; Kremsner, Peter G PG; de Messias-Reason, Iara J IJ; Velavan, Thirumalaisamy P TP
Publication Date: 2018-01-11

Variant appearance in text: rs41274768
PubMed Link: 29323238
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_18937.pdf
View BVdb publication page



Geographical distribution of complement receptor type 1 variants and their associated disease risk.

Plos One
Lucas Sandri, Thaisa T; Adukpo, Selorme S; Giang, Dao Phuong DP; Nguetse, Christian N CN; Antunes Andrade, Fabiana F; Tong, Hoang van HV; Toan, Nguyen Linh NL; Song, Le Huu LH; Elumalai, Preetham P; Thangaraj, Kumarasamy K; Valluri, Vijaya Lakshmi VL; Ntoumi, Francine F; Meyer, Christian G CG; Jose de Messias Reason, Iara I; Kremsner, Peter G PG; Velavan, Thirumalaisamy P TP
Publication Date: 2017

Variant appearance in text: rs41274768
PubMed Link: 28520715
Variant Present in the following documents:
  • Main text
  • pone.0175973.pdf
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: CR1: V2011M; rs41274768
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04

Variant appearance in text: CR1: V2011M; rs41274768
PubMed Link: 28009986
Variant Present in the following documents:
  • oncotarget-08-22741-s003.xlsx, sheet 2
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: rs41274768
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Extensive genomic variability of knops blood group polymorphisms is associated with sickle cell disease in Africa.

Evolutionary Bioinformatics Online
Duru, Kimberley C KC; Noble, Jenelle A JA; Guindo, Aldiouma A; Yi, Li L; Imumorin, Ikhide G IG; Diallo, Dapa A DA; Thomas, Bolaji N BN
Publication Date: 2015

Variant appearance in text: rs41274768
PubMed Link: 25788827
Variant Present in the following documents:
  • Main text
  • ebo-11-2015-025.pdf
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: CR1: V2011M; rs41274768
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Human genetic polymorphisms in the Knops blood group are not associated with a protective advantage against Plasmodium falciparum malaria in Southern Ghana.

Malaria Journal
Hansson, Helle H HH; Kurtzhals, Jørgen A JA; Goka, Bamenla Q BQ; Rodriques, Onike P OP; Nkrumah, Francis N FN; Theander, Thor G TG; Bygbjerg, Ib Christian IC; Alifrangis, Michael M
Publication Date: 2013-11-07

Variant appearance in text: rs41274768
PubMed Link: 24200236
Variant Present in the following documents:
  • Main text
  • 1475-2875-12-400.pdf
View BVdb publication page



DNA-based methods in the immunohematology reference laboratory.

Transfusion And Apheresis Science : Official Journal Of The World Apheresis Association : Official Journal Of The European Society For Haemapheresis
Reid, Marion E ME; Denomme, Gregory A GA
Publication Date: 2011-02

Variant appearance in text: rs41274768
PubMed Link: 21257350
Variant Present in the following documents:
  • Main text
View BVdb publication page