Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT2
Variant:p.A133D

B3GAT2

33 papers

RefSeq Summary

The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different ...

Pfam Domains

Glyco_transf_43aa 101–304UCSCGlycosyltransferase family 43

Gene Aliases

HGNC Name

beta-1,3-glucuronyltransferase 2

HGNC Alias Symbol

GlcAT-S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080742.3
p.A133D
c.398C>A
Surrounding Variants
1 paper
NM_080742.3
p.R128S
c.382C>A
1 paper
NM_080742.3
p.P145L
c.434C>T
1 paper
NM_080742.3
p.A120V
c.359C>T
1 paper
NM_080742.3
p.L101M
c.301C>A
1 paper
NM_080742.3
p.T99A
c.295A>G
1 paper
NM_080742.3
p.A96P
c.286G>C
1 paper
NM_080742.3
p.Q94L
c.281A>T
1 paper
NM_080742.3
p.E193A
c.578A>C
1 paper
NM_080742.3
p.G57D
c.170G>A
2 papers
NM_080742.3
p.R51G
c.151C>G
2 papers
NM_080742.3
p.G49G
c.147C>T
1 paper
NM_080742.3
p.I11I
c.33C>A
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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."