Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA5
Variant:p.L31V

ST8SIA5

25 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in t...

Pfam Domains

Glyco_transf_29aa 87–334UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

HGNC Previous Symbol

SIAT8E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013305.6
p.L31V
c.91T>G
Surrounding Variants
1 paper
NM_013305.6
p.S7L
c.20C>T
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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."