Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT1
Variant:p.N295N

B3GAT1

45 papers

RefSeq Summary

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

Pfam Domains

Glyco_transf_43aa 105–315UCSCGlycosyltransferase family 43

Gene Aliases

HGNC Name

beta-1,3-glucuronyltransferase 1

HGNC Previous Symbols

CD57; LEU7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_054025.3
p.N295N
c.885C>T
Surrounding Variants
1 paper
NM_054025.3
p.E284A
c.851A>C
1 paper
NM_054025.3
p.F258Y
c.773T>A
1 paper
NM_054025.3
p.D254Y
c.760G>T
1 paper
NM_054025.3
p.I253T
c.758T>C
1 paper
NM_054025.3
p.F245Y
c.734T>A
1 paper
NM_054025.3
p.A235P
c.703G>C
1 paper
NM_054025.3
p.G234R
c.700G>C
1 paper
NM_054025.3
p.G234R
c.700G>A
1 paper
NM_054025.3
p.R212G
c.634A>G
1 paper
NM_054025.3
p.V320M
c.958G>A
1 paper
NM_054025.3
p.V320A
c.959T>C
1 paper
NM_054025.3
p.P330S
c.988C>T
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."