Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.Y130C

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
9 papers
NM_005660.3
p.Y130C
c.389A>G
Surrounding Variants
6 papers
NM_005660.3
p.Q129*
c.385C>T
NM_001282651.2
p.Q157*
c.469C>T
1 paper
NM_005660.3
p.Q129insFs
c.385_386insA
1 paper
NM_005660.3
p.V131del1
c.391_392delAAC
1 paper
NM_005660.3
p.I133I
c.399C>T
2 papers
NM_005660.3
p.S134F
c.401C>T
1 paper
NM_001282651.2
p.I161_S162del1
c.482_484delAGA
1 paper
NM_005660.3
p.L136L
c.408A>T
1 paper
NM_005660.3
p.T123T
c.369C>T
1 paper
NM_005660.3
p.Y122insFs
c.364_365insC
1 paper
NM_005660.3
p.Y122H
c.364T>C
3 papers
NM_005660.3
p.Y122fs
c.364_365fs
2 papers
NM_005660.3
p.A139T
c.415G>A
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