Varaico: Literature-Extracted Genetic Variants

Gene:ST3GAL2
Variant:p.R248Q

ST3GAL2

24 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found...

Pfam Domains

Glyco_transf_29aa 96–343UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 2

HGNC Previous Symbol

SIAT4B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006927.4
p.R248Q
c.743G>A
Surrounding Variants
1 paper
NM_006927.4
p.K253_V254Splc
c.759+1G>T
1 paper
NM_006927.4
p.F262L
c.784T>C
1 paper
NM_006927.4
p.F262L
c.786C>G
1 paper
NM_006927.4
p.F262L
c.786C>A
1 paper
NM_006927.4
p.H273H
c.819C>T
1 paper
NM_006927.4
p.V294L
c.880G>T
1 paper
NM_006927.4
p.V294L
c.880G>C
1 paper
NM_006927.4
p.L338L
c.1012C>T
1 paper
NM_006927.4
p.K340*
c.1018A>T
1 paper
NM_006927.4
p.K340M
c.1019A>T
1 paper
NM_006927.4
p.I227I
c.681C>T
1 paper
NM_006927.4
p.V212I
c.634G>A
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