Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.R443Q

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
3 papers
NM_001128174.3
p.R443Q
c.1328G>A
Surrounding Variants
1 paper
NM_001128174.3
p.V441_N442insAC
c.1321_1325ins6
1 paper
NM_001128174.3
p.P440L
c.1319C>T
1 paper
NM_001128174.3
p.P440S
c.1318C>T
1 paper
NM_001128174.3
p.W447R
c.1339T>C
1 paper
NM_001128174.3
p.Q436H
c.1308A>C
1 paper
NM_001128174.3
p.Q436H
c.1308A>T
2 papers
NM_001128174.3
p.R453C
c.1357C>T
1 paper
NM_001128174.3
p.H433insFs
c.1298_1299insT
1 paper
NM_001128174.3
p.H454Y
c.1360C>T
1 paper
NM_001128174.3
p.E431E
c.1293A>G
1 paper
NM_001128174.3
p.N455I
c.1364A>T
1 paper
NM_001128174.3
p.E431*
c.1291G>T
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