Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.L41delFs

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.L41delFs
c.123delA
Surrounding Variants
1 paper
NM_001128174.3
p.T40T
c.120G>A
1 paper
NM_001128174.3
p.A42P
c.124G>C
1 paper
NM_001128174.3
p.T40M
c.119C>T
1 paper
NM_001128174.3
p.S43L
c.128C>T
1 paper
NM_001128174.3
p.A44T
c.130G>A
1 paper
NM_001128174.3
p.E47E
c.141G>A
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.H34Q
c.102T>A
1 paper
NM_001128174.3
p.H50Q
c.150C>G
1 paper
NM_001128174.3
p.H51R
c.152A>G
1 paper
NM_001128174.3
p.H51L
c.152A>T
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