Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT1

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
1–12 of 43 variants
2 papers
NM_054025.3
p.N295N
c.885C>T
1 paper
NM_054025.3
p.M1L
c.1A>T
1 paper
NM_054025.3
p.M1L
c.1A>C
1 paper
NM_054025.3
p.P2L
c.5C>T
1 paper
NM_054025.3
p.R5W
c.13C>T
1 paper
NM_054025.3
p.I7N
c.20T>A
1 paper
NM_054025.3
p.V11I
c.31G>A
1 paper
NM_054025.3
p.V11V
c.33C>A
1 paper
NM_054025.3
p.A34V
c.101C>T
1 paper
NM_054025.3
p.R45C
c.133C>T
1 paper
NM_054025.3
p.D52V
c.155A>T
1 paper
NM_054025.3
p.Y71H
c.211T>C
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