Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT3
Variant:p.L120M

B3GAT3

88 papers

RefSeq Summary

The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric link...

Pfam Domains

Glyco_transf_43aa 96–312UCSCGlycosyltransferase family 43

Gene Aliases

HGNC Name

beta-1,3-glucuronyltransferase 3

HGNC Alias Symbol

GlcAT-I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012200.4
p.L120M
c.358C>A
Surrounding Variants
1 paper
NM_012200.4
p.D113E
c.339T>G
1 paper
NM_012200.4
p.D113E
c.339T>A
1 paper
NM_012200.4
p.D113A
c.338A>C
1 paper
NM_012200.4
p.A127T
c.379G>A
1 paper
NM_012200.4
p.D113N
c.337G>A
1 paper
NM_012200.4
p.H107insFs
c.320_321insA
5 papers
NM_012200.4
p.T139M
c.416C>T
7 papers
NM_012200.4
p.P140L
c.419C>T
1 paper
NM_012200.4
p.R144W
c.430C>T
1 paper
NM_012200.4
p.L145F
c.433C>T
1 paper
NM_012200.4
p.G157V
c.470G>T
1 paper
NM_012200.4
p.E159K
c.475G>A
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."