Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.L190L

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.L190L
c.570G>A
Surrounding Variants
1 paper
NM_001128174.3
p.Q192_L205del14
c.574_614del42
1 paper
NM_001128174.3
p.Q192delFs
c.575_576delAA
1 paper
NM_001128174.3
p.R187H
c.560G>A
1 paper
NM_001128174.3
p.R187C
c.559C>T
1 paper
NM_001128174.3
p.M194I
c.582G>A
1 paper
NM_001128174.3
p.M194I
c.582G>C
1 paper
NM_001128174.3
p.M194I
c.582G>T
1 paper
NM_001128174.3
p.K195delFs
c.585delA
1 paper
NM_001128174.3
p.T185R
c.554C>G
1 paper
NM_001128174.3
p.G198D
c.593G>A
2 papers
NM_001128174.3
p.N181D
c.541A>G
1 paper
NM_001128174.3
p.F180_N181insFs
c.540_541insA
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