Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.A14P

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.A14P
c.40G>C
Surrounding Variants
1 paper
NM_001128174.3
p.S13N
c.38G>A
3 papers
NM_001128174.3
p.W12*
c.35G>A
2 papers
NM_001128174.3
p.W12S
c.35G>C
2 papers
NM_001128174.3
p.W12L
c.35G>T
1 paper
NM_001128174.3
p.W12_V15del4
c.34_44del12
1 paper
NM_001128174.3
p.L11L
c.31C>T
1 paper
NM_001128174.3
p.A18P
c.52G>C
1 paper
NM_001128174.3
p.K19E
c.55A>G
1 paper
NM_001128174.3
p.I9delFs
c.27delT
1 paper
NM_001128174.3
p.F8F
c.24C>T
1 paper
NM_001128174.3
p.A21P
c.61G>C
1 paper
NM_001128174.3
p.Y7D
c.19T>G
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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."