Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.R530K

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.R530K
c.1589G>A
Surrounding Variants
1 paper
NM_001128174.3
p.I534S
c.1601T>G
1 paper
NM_001128174.3
p.V540_K541insA
c.1618_1622ins3
1 paper
NM_001128174.3
p.H512D
c.1534C>G
1 paper
NM_001128174.3
p.R501*
c.1501A>T
1 paper
NM_001128174.3
p.K497R
c.1490A>G
1 paper
NM_001128174.3
p.V495M
c.1483G>A
1 paper
NM_001128174.3
p.Y489S
c.1466A>C
1 paper
NM_001128174.3
p.G484S
c.1450G>A
2 papers
NM_001128174.3
p.L474S
c.1421T>C
1 paper
NM_001128174.3
p.L474fs
c.1420_1421fs
1 paper
NM_001128174.3
p.Q471H
c.1413G>C
1 paper
NM_001128174.3
p.Q471H
c.1413G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."