Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.F54C

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.F54C
c.161T>G
Surrounding Variants
1 paper
NM_001128174.3
p.F54L
c.162C>A
1 paper
NM_001128174.3
p.F54L
c.162C>G
1 paper
NM_001128174.3
p.F54L
c.160T>C
1 paper
NM_001128174.3
p.L56delFs
c.167delT
1 paper
NM_001128174.3
p.L56insFs
c.167_168insC
1 paper
NM_001128174.3
p.H51R
c.152A>G
1 paper
NM_001128174.3
p.H51L
c.152A>T
1 paper
NM_001128174.3
p.H50Q
c.150C>G
1 paper
NM_001128174.3
p.R48fs
c.142_143fs
1 paper
NM_001128174.3
p.R48_G49del1
c.143_145delGAG
1 paper
NM_001128174.3
p.E47E
c.141G>A
1 paper
NM_001128174.3
p.D61Y
c.181G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."