Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.G126_L127delFs

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.G126_L127delFs
c.378_379delTC
Surrounding Variants
1 paper
NM_001128174.3
p.G126R
c.376G>C
1 paper
NM_001128174.3
p.Q125fs
c.373_374fs
1 paper
NM_001128174.3
p.Q125E
c.373C>G
1 paper
NM_001128174.3
p.K128E
c.382A>G
1 paper
NM_001128174.3
p.I124M
c.372C>G
1 paper
NM_001128174.3
p.K129*
c.385A>T
1 paper
NM_001128174.3
p.K129R
c.386A>G
1 paper
NM_001128174.3
p.E130K
c.388G>A
1 paper
NM_001128174.3
p.K131R
c.392A>G
1 paper
NM_001128174.3
p.H121Y
c.361C>T
1 paper
NM_001128174.3
p.N120S
c.359A>G
1 paper
NM_001128174.3
p.G119G
c.357C>T
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