Varaico: Literature-Extracted Genetic Variants

Gene:UGCG
Variant:p.L18delFs

UGCG

133 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of thi...

Pfam Domains

Glyco_transf_21aa 21–388UCSCGlycosyl transferase family 21

Gene Aliases

HGNC Name

UDP-glucose ceramide glucosyltransferase

HGNC Alias Symbol

GCS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003358.3
p.L18delFs
c.54delC
Surrounding Variants
1 paper
NM_003358.3
p.L20delFs
c.60delG
1 paper
NM_003358.3
p.W23*
c.68G>A
1 paper
NM_003358.3
p.W23*
c.69G>A
1 paper
NM_003358.3
p.A12D
c.35C>A
1 paper
NM_003358.3
p.M11delins
c.32delinsG
1 paper
NM_003358.3
p.H26R
c.77A>G
1 paper
NM_003358.3
p.M28insFs
c.84dupG
1 paper
NM_003358.3
p.M28_A29insFs
c.84_85insGG
1 paper
NM_003358.3
p.A29P
c.85G>C
1 paper
NM_003358.3
p.A29D
c.86C>A
1 paper
NM_003358.3
p.T33N
c.98C>A
2 papers
NM_003358.3
p.M1I
c.3G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."