Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT3
Variant:p.R247K

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
2 papers
NM_012200.4
p.R247K
c.740G>A
Surrounding Variants
1 paper
NM_012200.4
p.P250L
c.749C>T
3 papers
NM_012200.4
p.V251A
c.752T>C
1 paper
NM_012200.4
p.A257V
c.770C>T
2 papers
NM_012200.4
p.V237M
c.709G>A
2 papers
NM_012200.4
p.V258M
c.772G>A
1 paper
NM_012200.4
p.Q232*
c.694C>T
1 paper
NM_001288721.2
p.V224E
c.671T>A
1 paper
NM_012200.4
p.V231I
c.691G>A
1 paper
NM_012200.4
p.G228fs
c.682_683fs
6 papers
NM_012200.4
p.R225*
c.673C>T
7 papers
NM_012200.4
p.L224Q
c.671T>A
9 papers
NM_012200.4
p.G223S
c.667G>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."