Varaico: Literature-Extracted Genetic Variants

Gene:UGT8

UGT8

236 papers

RefSeq Summary

The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, whi...

Pfam Domains

UDPGTaa 21–510UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glycosyltransferase 8

HGNC Previous Symbol

CGT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 255 variants
7 papers
NM_001128174.3
p.P226L
c.677C>T
3 papers
NM_001128174.3
p.W12*
c.35G>A
3 papers
NM_001128174.3
p.E102K
c.304G>A
3 papers
NM_001128174.3
p.S229Y
c.686C>A
3 papers
NM_001128174.3
p.R443Q
c.1328G>A
2 papers
NM_001128174.3
p.W12S
c.35G>C
2 papers
NM_001128174.3
p.W12L
c.35G>T
2 papers
NM_001128174.3
p.I23I
c.69C>T
2 papers
NM_001128174.3
p.A63T
c.187G>A
2 papers
NM_001128174.3
p.F104C
c.311T>G
2 papers
NM_001128174.3
p.G119S
c.355G>A
2 papers
NM_001128174.3
p.N181D
c.541A>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."