Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.L248L

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
2 papers
NM_001128174.3
p.L248L
c.744G>T
Surrounding Variants
1 paper
NM_001128174.3
p.E249Q
c.745G>C
1 paper
NM_001128174.3
p.L248P
c.743T>C
1 paper
NM_001128174.3
p.L248M
c.742C>A
2 papers
NM_001128174.3
p.D245E
c.735C>A
2 papers
NM_001128174.3
p.D245E
c.735C>G
1 paper
NM_001128174.3
p.C243C
c.729T>C
1 paper
NM_001128174.3
p.T254T
c.762T>C
1 paper
NM_001128174.3
p.P256S
c.766C>T
1 paper
NM_001128174.3
p.M241L
c.721A>T
2 papers
NM_001128174.3
p.L239L
c.715C>T
1 paper
NM_001128174.3
p.V259I
c.775G>A
1 paper
NM_001128174.3
p.V259L
c.775G>C
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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."