Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.E75D

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.E75D
c.225A>T
Surrounding Variants
1 paper
NM_005660.3
p.E75D
c.225A>C
1 paper
NM_005660.3
p.E75A
c.224A>C
1 paper
NM_005660.3
p.E75K
c.223G>A
1 paper
NM_005660.3
p.K78E
c.232A>G
1 paper
NM_005660.3
p.K78Q
c.232A>C
5 papers
NM_005660.3
p.K78R
c.233A>G
1 paper
NM_005660.3
p.K78K
c.234A>G
1 paper
NM_005660.3
p.G79V
c.236G>T
3 papers
NM_005660.3
p.V71L
c.211G>T
16 papers
NM_005660.3
p.V71M
c.211G>A
1 paper
NM_005660.3
p.L80del1
c.238_240delGAG
5 papers
NM_005660.3
p.T69I
c.206C>T
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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."