Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA4
Variant:p.L48P

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
Selected Variant
1 paper
NM_005668.6
p.L48P
c.143T>C
Surrounding Variants
1 paper
NM_005668.6
p.S51N
c.152G>A
1 paper
NM_005668.6
p.I56T
c.167T>C
2 papers
NM_005668.6
p.R57Q
c.170G>A
1 paper
NM_005668.6
p.K58R
c.173A>G
1 paper
NM_005668.6
p.G60G
c.180C>A
1 paper
NM_005668.6
p.Q65*
c.193C>T
1 paper
NM_005668.6
p.L79insFs
c.236_237ins7
1 paper
NM_005668.6
p.R82Splc
c.245+1G>A
1 paper
NM_005668.6
p.Q35*
c.103C>T
1 paper
NM_005668.6
p.I25V
c.73A>G
1 paper
NM_005668.6
p.K23R
c.68A>G
2 papers
NM_005668.6
p.S14N
c.41G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."