Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA1

ST8SIA1

25 papers

RefSeq Summary

Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by thi...

Pfam Domains

Glyco_transf_29aa 93–339UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1

HGNC Previous Symbols

SIAT8; SIAT8A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
2 papers
NM_003034.4
p.L40F
c.118C>T
1 paper
NM_003034.4
p.V38M
c.112G>A
1 paper
NM_003034.4
p.P47H
c.140C>A
1 paper
NM_003034.4
p.R69_R70insFs
c.207_208insC
1 paper
NM_003034.4
p.M94V
c.280A>G
1 paper
NM_003034.4
p.N98N
c.294T>C
1 paper
NM_003034.4
p.Y107H
c.319T>C
1 paper
NM_003034.4
p.S120L
c.359C>T
1 paper
NM_003034.4
p.Q127_A128Splc
c.381+768A>C
1 paper
NM_003034.4
p.G142R
c.424G>C
1 paper
NM_003034.4
p.G142R
c.424G>A
1 paper
NM_003034.4
p.C152Y
c.455G>A
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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."