Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA4

ST8SIA4

62 papers

RefSeq Summary

The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adh...

Pfam Domains

Glyco_transf_29aa 96–348UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4

HGNC Previous Symbol

SIAT8D

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
2 papers
NM_005668.6
p.S14N
c.41G>A
2 papers
NM_005668.6
p.R57Q
c.170G>A
2 papers
NM_005668.6
p.R168S
c.504G>T
2 papers
NM_005668.6
p.R168S
c.504G>C
2 papers
NM_005668.6
p.R203*
c.607C>T
2 papers
NM_005668.6
p.K276Q
c.826A>C
2 papers
NM_005668.6
p.C292insFs
c.874_875insG
2 papers
NM_005668.6
p.A348_L349insFs
c.1044_1045insC
1 paper
NM_005668.6
p.W8C
c.24G>T
1 paper
NM_005668.6
p.W8C
c.24G>C
1 paper
NM_005668.6
p.K23R
c.68A>G
1 paper
NM_005668.6
p.I25V
c.73A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."