Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA2
Variant:p.R212Q

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.R212Q
c.635G>A
Surrounding Variants
1 paper
NM_006011.4
p.E215Q
c.643G>C
5 papers
NM_006011.4
p.P207P
c.621C>G
1 paper
NM_006011.4
p.T204I
c.611C>T
1 paper
NM_006011.4
p.R223W
c.667C>T
1 paper
NM_006011.4
p.K225R
c.674A>G
1 paper
NM_006011.4
p.R229W
c.685C>T
1 paper
NM_006011.4
p.I237L
c.709A>C
1 paper
NM_006011.4
p.L238P
c.713T>C
1 paper
NM_006011.4
p.I240L
c.718A>C
1 paper
NM_006011.4
p.P241T
c.721C>A
1 paper
NM_006011.4
p.P241A
c.721C>G
1 paper
NM_006011.4
p.P241L
c.722C>T
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