Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA2
Variant:p.G172R

ST8SIA2

80 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded ...

Pfam Domains

Glyco_transf_29aa 111–363UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2

HGNC Previous Symbol

SIAT8B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006011.4
p.G172R
c.514G>C
Surrounding Variants
2 papers
NM_006011.4
p.G172R
c.514G>A
1 paper
NM_006011.4
p.C171Y
c.512G>A
1 paper
NM_006011.4
p.C157insFs
c.470_471insAG
1 paper
NM_006011.4
p.L149M
c.445C>A
5 papers
NM_006011.4
p.E141K
c.421G>A
1 paper
NM_006011.4
p.R183Splc
c.548+63A>G
1 paper
NM_006011.4
p.N138K
c.414C>A
1 paper
NM_006011.4
p.N138K
c.414C>G
1 paper
NM_006011.4
p.D130E
c.390C>A
1 paper
NM_006011.4
p.D130E
c.390C>G
1 paper
NM_006011.4
p.D130A
c.389A>C
1 paper
NM_006011.4
p.D130N
c.388G>A
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