Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.Y7D

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.Y7D
c.19T>G
Surrounding Variants
1 paper
NM_001128174.3
p.P6S
c.16C>T
1 paper
NM_001128174.3
p.F8F
c.24C>T
1 paper
NM_001128174.3
p.I9delFs
c.27delT
1 paper
NM_001128174.3
p.Y4_T5delFs
c.12_15del4
1 paper
NM_001128174.3
p.L11L
c.31C>T
1 paper
NM_001128174.3
p.W12_V15del4
c.34_44del12
1 paper
NM_001128174.3
p.K2*
c.4A>T
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.M1T
c.2T>C
1 paper
NM_001128174.3
p.M1insFs
c.3dupG
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