Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT3
Variant:p.Y22C

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.Y22C
c.65A>G
Surrounding Variants
2 papers
NM_012200.4
p.L21del1
c.61_63delGAG
1 paper
NM_012200.4
p.L24R
c.71T>G
1 paper
NM_012200.4
p.Q26L
c.77A>T
3 papers
NM_012200.4
p.S16*
c.47C>A
1 paper
NM_012200.4
p.A11A
c.33C>A
1 paper
NM_012200.4
p.A11V
c.32C>T
7 papers
NM_012200.4
p.M1V
c.1A>G
1 paper
NM_001288721.2
p.M1V
c.1A>G
1 paper
NM_012200.4
p.P36P
c.108C>T
1 paper
NM_012200.4
p.R38W
c.112C>T
1 paper
NM_012200.4
p.I51S
c.152T>G
1 paper
NM_012200.4
p.S52Y
c.155C>A
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