Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.Q47R
Back to variants list

AQP1

NM_198098.4:p.Q47R

Associated Papers

Next-Generation Sequencing Technologies in Blood Group Typing.

Fürst D et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

The AQP1 mutation c.601delG causes the Co-negative phenotype in four patients belonging to the Romani (Gypsy) ethnic group.

Flesch BK et al.

Blood Transfusion = Trasfusione Del Sangue, 2014

Molecular basis of two novel and related high-prevalence antigens in the Kell blood group system, KUCI and KANT, and their serologic and spatial association with K11 and KETI.

Velliquette RW et al.

Transfusion, 2013

A functional AQP1 allele producing a Co(a-b-) phenotype revises and extends the Colton blood group system.

Arnaud L et al.

Transfusion, 2010

A silenced allele in the Colton blood group system.

Karpasitou K et al.

Vox Sanguinis, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."