BCAM c.230G>C ;(p.R77P)

Variant ID: 19-45315445-G-C

NM_005581.4(BCAM):c.230G>C;(p.R77P)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: rs28399653
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: rs28399653
PubMed Link: 34103707
Variant Present in the following documents:
  • Main text
  • 41435_2021_Article_137.pdf
View BVdb publication page



Molecular Blood Group Screening in Donors from Arabian Countries and Iran Using High-Throughput MALDI-TOF Mass Spectrometry and PCR-SSP.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Flesch, Brigitte Katharina BK; Scherer, Vanessa V; Just, Burkhard B; Opitz, Andreas A; Ochmann, Oswin O; Janson, Anne A; Steitz, Monika M; Zeiler, Thomas T
Publication Date: 2020-10

Variant appearance in text: rs28399653
PubMed Link: 33173458
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-Generation Sequencing Technologies in Blood Group Typing.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Fürst, Daniel D; Tsamadou, Chrysanthi C; Neuchel, Christine C; Schrezenmeier, Hubert H; Mytilineos, Joannis J; Weinstock, Christof C
Publication Date: 2020-02

Variant appearance in text: rs28399653
PubMed Link: 32110189
Variant Present in the following documents:
  • Main text
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: rs28399653
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Towards a Regional Registry of Extended Typed Blood Donors: Molecular Typing for Blood Group, Platelet and Granulocyte Antigens.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Portegys, Jan J; Rink, Gabi G; Bloos, Pia P; Scharberg, Erwin A EA; Klüter, Harald H; Bugert, Peter P
Publication Date: 2018-10

Variant appearance in text: rs28399653
PubMed Link: 30498411
Variant Present in the following documents:
  • Main text
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: rs28399653
PubMed Link: 30283273
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: rs28399653
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: rs28399653
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, 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: rs28399653
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
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: rs28399653
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR
Publication Date: 2014-02

Variant appearance in text: rs28399653
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.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: rs28399653
PubMed Link: 21257350
Variant Present in the following documents:
  • Main text
View BVdb publication page