Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.S79N
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RHAG

NM_000324.3:p.S79N

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

A RHAG point mutation selectively disrupts Rh antigen expression.

Mu S et al.

Transfusion Medicine (oxford, England), 2019

A variant RhAG protein encoded by the RHAG*572A allele causes serological weak D expression while maintaining normal RhCE phenotypes.

Wen J et al.

Transfusion, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 321.156

A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene.

Tian L et al.

Transfusion, 2011

The Rh protein family: gene evolution, membrane biology, and disease association.

Huang CH et al.

Cellular and Molecular Life Sciences : Cmls, 2010

A new blood group system, RHAG: three antigens resulting from amino acid substitutions in the Rh-associated glycoprotein.

Tilley L et al.

Vox Sanguinis, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Molecular biology and genetics of the Rh blood group system.

Huang CH et al.

Seminars in Hematology, 2000

Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.

Huang CH et al.

American Journal of Hematology, 1999

Blood group immunochemistry and genetics.

Unknown Author

Seminars in Hematology, 1981

Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures.

Callebaut I et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 0

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