Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.I38_S39Fs

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.I38_S39Fs
c.112_116delinsTGGTGGTCCFs
Surrounding Variants
3 papers
NM_005660.3
p.I38_S39Fs
c.112_116delinsTGGTGGTCCAGAATGFs
1 paper
NM_005660.3
p.S39_L40insFs
c.117_118insT
1 paper
NM_005660.3
p.I38L
c.112A>T
1 paper
NM_005660.3
p.I38L
c.112A>C
3 papers
NM_005660.3
p.I38fs
c.112_113fs
1 paper
NM_005660.3
p.Y37*
c.111C>A
1 paper
NM_005660.3
p.Y37H
c.109T>C
4 papers
NM_005660.3
p.V42fs
c.124_125fs
1 paper
NM_005660.3
p.V42A
c.125T>C
3 papers
NM_005660.3
p.V42delFs
c.124delC
1 paper
NM_005660.3
p.L35P
c.104T>C
1 paper
NM_005660.3
p.V42V
c.126G>A
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