Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.L225P

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
Selected Variant
1 paper
NM_001128174.3
p.L225P
c.674T>C
Surrounding Variants
1 paper
NM_001128174.3
p.L225L
c.673C>T
7 papers
NM_001128174.3
p.P226L
c.677C>T
1 paper
NM_001128174.3
p.E227K
c.679G>A
1 paper
NM_001128174.3
p.E227insFs
c.680dupA
3 papers
NM_001128174.3
p.S229Y
c.686C>A
1 paper
NM_001128174.3
p.Q220H
c.660G>C
1 paper
NM_001128174.3
p.Q220H
c.660G>T
1 paper
NM_001128174.3
p.V234A
c.701T>C
1 paper
NM_001128174.3
p.H235Y
c.703C>T
1 paper
NM_001128174.3
p.L239insFs
c.715dupC
1 paper
NM_001128174.3
p.L212F
c.634C>T
2 papers
NM_001128174.3
p.L239L
c.715C>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."