Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA2
Variant:p.N323H

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
1 paper
NM_006011.4
p.N323H
c.967A>C
Surrounding Variants
1 paper
NM_006011.4
p.Q322H
c.966G>C
1 paper
NM_006011.4
p.Q322H
c.966G>T
1 paper
NM_006011.4
p.P319L
c.956C>T
1 paper
NM_006011.4
p.R305C
c.913C>T
2 papers
NM_006011.4
p.A303P
c.907G>C
2 papers
NM_006011.4
p.P345L
c.1034C>T
1 paper
NM_006011.4
p.Y300F
c.899A>T
1 paper
NM_006011.4
p.M348V
c.1042A>G
1 paper
NM_006011.4
p.R292G
c.874A>G
1 paper
NM_006011.4
p.K287Q
c.859A>C
1 paper
NM_006011.4
p.N286K
c.858C>A
1 paper
NM_006011.4
p.N286K
c.858C>G
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