Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.P165L

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.P165L
c.494C>T
Surrounding Variants
1 paper
NM_001128174.3
p.A170V
c.509C>T
1 paper
NM_001128174.3
p.S159S
c.477A>G
1 paper
NM_001128174.3
p.P171S
c.511C>T
1 paper
NM_001128174.3
p.P171insFs
c.512_513ins4
1 paper
NM_001128174.3
p.V157A
c.470T>C
1 paper
NM_001128174.3
p.Y155C
c.464A>G
1 paper
NM_001128174.3
p.V153I
c.457G>A
1 paper
NM_001128174.3
p.L151F
c.453A>C
1 paper
NM_001128174.3
p.L151F
c.453A>T
1 paper
NM_001128174.3
p.L150P
c.449T>C
1 paper
NM_001128174.3
p.F180_N181insFs
c.540_541insA
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."