Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.Y68N

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.Y68N
c.202T>A
Surrounding Variants
1 paper
NM_001128174.3
p.H67H
c.201T>C
1 paper
NM_001128174.3
p.Q71_R72del1
c.212_214delAGC
1 paper
NM_001128174.3
p.S65T
c.193T>A
1 paper
NM_001128174.3
p.P64Q
c.191C>A
1 paper
NM_001128174.3
p.P64R
c.191C>G
1 paper
NM_001128174.3
p.P64_S69delFs
c.192_205del14
2 papers
NM_001128174.3
p.A63T
c.187G>A
1 paper
NM_001128174.3
p.I62I
c.186C>A
1 paper
NM_001128174.3
p.Y73Y
c.219C>T
1 paper
NM_001128174.3
p.D61Y
c.181G>T
1 paper
NM_001128174.3
p.I76M
c.228C>G
1 paper
NM_001128174.3
p.S79I
c.236G>T
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