Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.G249_A253insFs

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
5 papers
NM_005660.3
p.G249_A253insFs
c.747_757dup11
Surrounding Variants
7 papers
NM_005660.3
p.A253fs
c.757_758fs
1 paper
NM_005660.3
p.A253T
c.757G>A
7 papers
NM_005660.3
p.E254*
c.760G>T
1 paper
NM_005660.3
p.A253insFs
c.757_758ins10
1 paper
NM_005660.3
p.A253insFs
c.757_758ins11
4 papers
NM_005660.3
p.W252*
c.756G>A
2 papers
NM_005660.3
p.W252*
c.755G>A
4 papers
NM_005660.3
p.W251delFs
c.753delC
1 paper
NM_005660.3
p.W251fs
c.751_752fs
2 papers
NM_005660.3
p.W251*
c.753G>A
4 papers
NM_005660.3
p.W251*
c.752G>A
1 paper
NM_005660.3
p.W251R
c.751T>C
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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."