Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2

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
1–12 of 376 variants
16 papers
NM_005660.3
p.V71M
c.211G>A
16 papers
NM_005660.3
p.V331I
c.991G>A
14 papers
NM_005660.3
p.Q168*
c.502C>T
11 papers
NM_005660.3
p.S213F
c.638C>T
10 papers
NM_005660.3
p.M1I
c.3G>A
10 papers
NM_005660.3
p.G266V
c.797G>T
10 papers
NM_005660.3
p.G282R
c.844G>C
10 papers
NM_005660.3
p.G282R
c.844G>A
9 papers
NM_005660.3
p.M1V
c.1A>G
9 papers
NM_005660.3
p.Y130C
c.389A>G
9 papers
NM_005660.3
p.V258M
c.772G>A
9 papers
NM_005660.3
p.F324fs
c.970_971fs
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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."