Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.I181V

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
2 papers
NM_005660.3
p.I181V
c.541A>G
Surrounding Variants
1 paper
NM_005660.3
p.I181L
c.541A>C
1 paper
NM_005660.3
p.I181M
c.543T>G
1 paper
NM_005660.3
p.V179F
c.535G>T
8 papers
NM_005660.3
p.Q183*
c.547C>T
1 paper
NM_005660.3
p.G178A
c.533G>C
3 papers
NM_005660.3
p.G178D
c.533G>A
1 paper
NM_005660.3
p.A184A
c.552A>C
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
4 papers
NM_005660.3
p.L175del1
c.523_524delGAG
1 paper
NM_005660.3
p.Q186*
c.556C>T
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