Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT1
Variant:p.L83V

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
1 paper
NM_054025.3
p.L83V
c.247C>G
Surrounding Variants
1 paper
NM_054025.3
p.L83L
c.247C>T
1 paper
NM_054025.3
p.Y71H
c.211T>C
1 paper
NM_054025.3
p.L109Q
c.326T>A
1 paper
NM_054025.3
p.D52V
c.155A>T
1 paper
NM_054025.3
p.L115I
c.343C>A
1 paper
NM_054025.3
p.R45C
c.133C>T
1 paper
NM_054025.3
p.R132C
c.394C>T
1 paper
NM_054025.3
p.R135R
c.405C>T
1 paper
NM_054025.3
p.R150H
c.449G>A
1 paper
NM_054025.3
p.R155C
c.463C>T
1 paper
NM_054025.3
p.R155H
c.464G>A
1 paper
NM_054025.3
p.D160E
c.480C>G
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