Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.D83D

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.D83D
c.249T>C
Surrounding Variants
1 paper
NM_001128174.3
p.S82L
c.245C>T
1 paper
NM_001128174.3
p.S79I
c.236G>T
1 paper
NM_001128174.3
p.I76M
c.228C>G
1 paper
NM_001128174.3
p.R91R
c.271C>A
1 paper
NM_001128174.3
p.R91W
c.271C>T
1 paper
NM_001128174.3
p.R91Q
c.272G>A
1 paper
NM_001128174.3
p.Y73Y
c.219C>T
1 paper
NM_001128174.3
p.S95C
c.284C>G
1 paper
NM_001128174.3
p.Q71_R72del1
c.212_214delAGC
1 paper
NM_001128174.3
p.G96G
c.288G>T
1 paper
NM_001128174.3
p.T99S
c.295A>T
1 paper
NM_001128174.3
p.Y68N
c.202T>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."