Varaico: Literature-Extracted Genetic Variants

Gene:ABO
Variant:p.R176G

ABO

79 papers

RefSeq Summary

This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele de...

Pfam Domains

Glyco_transf_6aa 40–353UCSCGlycosyltransferase family 6

Gene Aliases

HGNC Name

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

HGNC Alias Symbols

A3GALNT; A3GALT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
28 papers
NM_020469.3
p.R176G
c.526C>G
Surrounding Variants
1 paper
NM_020469.3
p.R176H
c.527G>A
2 papers
NM_020469.3
p.R180P
c.539G>C
1 paper
NM_020469.3
p.W181R
c.541T>C
1 paper
NM_020469.3
p.W181R
c.541T>A
2 papers
NM_020469.3
p.W181*
c.542G>A
1 paper
NM_020469.3
p.W181C
c.543G>C
1 paper
NM_020469.3
p.Q169P
c.506A>C
1 paper
NM_020469.3
p.Q169*
c.505C>T
1 paper
NM_020469.3
p.R168Q
c.503G>A
1 paper
NM_020469.3
p.R168W
c.502C>T
2 papers
NM_020469.3
p.T166delFs
c.496delT
1 paper
NM_020469.3
p.T166fs
c.496_497fs
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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."