Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.L120H

SLC35A2

297 papers

RefSeq Summary

This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it ...

Pfam Domains

Nuc_sug_transpaa 7–123UCSCNucleotide-sugar transporter

Gene Aliases

HGNC Name

solute carrier family 35 member A2

HGNC Previous Symbol

UGALT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005660.3
p.L120H
c.359T>A
Surrounding Variants
5 papers
NM_005660.3
p.L120P
c.359T>C
1 paper
NM_005660.3
p.L120L
c.360C>G
7 papers
NM_005660.3
p.L120fs
c.358_359fs
5 papers
NM_005660.3
p.L120delFs
c.359_360delGA
1 paper
NM_005660.3
p.Y122insFs
c.364_365insC
1 paper
NM_005660.3
p.Y122H
c.364T>C
3 papers
NM_005660.3
p.Y122fs
c.364_365fs
4 papers
NM_005660.3
p.P118R
c.353C>G
4 papers
NM_005660.3
p.V117fs
c.349_350fs
3 papers
NM_005660.3
p.A116delFs
c.348delT
1 paper
NM_005660.3
p.T123T
c.369C>T
3 papers
NM_005660.3
p.A116E
c.347C>A
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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."