Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.L212F

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.L212F
c.634C>T
Surrounding Variants
1 paper
NM_001128174.3
p.L212_K214del3
c.634_641del9
1 paper
NM_001128174.3
p.S208N
c.623G>A
1 paper
NM_001128174.3
p.S208I
c.623G>T
1 paper
NM_001128174.3
p.G206R
c.616G>C
1 paper
NM_001128174.3
p.G206delFs
c.616delG
1 paper
NM_001128174.3
p.Q220H
c.660G>C
1 paper
NM_001128174.3
p.Q220H
c.660G>T
1 paper
NM_001128174.3
p.L201_I202insFs
c.603_604insG
1 paper
NM_001128174.3
p.L201H
c.602T>A
1 paper
NM_001128174.3
p.L201I
c.601C>A
1 paper
NM_001128174.3
p.L225L
c.673C>T
1 paper
NM_001128174.3
p.L225P
c.674T>C
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