Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.Q186*

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.Q186*
c.556C>T
Surrounding Variants
1 paper
NM_001282651.2
p.Q213fs
c.637_638fs
8 papers
NM_005660.3
p.Q185*
c.553C>T
1 paper
NM_005660.3
p.Q185K
c.553C>A
1 paper
NM_005660.3
p.A184A
c.552A>C
5 papers
NM_005660.3
p.G188S
c.562G>A
8 papers
NM_005660.3
p.Q183*
c.547C>T
1 paper
NM_005660.3
p.G189A
c.566G>C
1 paper
NM_005660.3
p.G189E
c.566G>A
4 papers
NM_005660.3
p.G190fs
c.568_569fs
1 paper
NM_005660.3
p.I181M
c.543T>G
1 paper
NM_005660.3
p.G190A
c.569G>C
4 papers
NM_005660.3
p.G190insFs
c.569dupG
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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."