Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT3
Variant:p.D194E

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.D194E
c.582C>A
Surrounding Variants
1 paper
NM_012200.4
p.D194E
c.582C>G
2 papers
NM_012200.4
p.D194A
c.581A>C
1 paper
NM_012200.4
p.D195A
c.584A>C
1 paper
NM_012200.4
p.D195E
c.585T>G
1 paper
NM_012200.4
p.D195E
c.585T>A
2 papers
NM_012200.4
p.A193S
c.577G>T
1 paper
NM_012200.4
p.D196A
c.587A>C
1 paper
NM_012200.4
p.D196E
c.588C>G
1 paper
NM_012200.4
p.D196E
c.588C>A
1 paper
NM_012200.4
p.Q187P
c.560A>C
1 paper
NM_012200.4
p.P182L
c.545C>T
6 papers
NM_012200.4
p.R169W
c.505C>T
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