Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.A116delFs

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
3 papers
NM_005660.3
p.A116delFs
c.348delT
Surrounding Variants
4 papers
NM_005660.3
p.V117fs
c.349_350fs
3 papers
NM_005660.3
p.A116E
c.347C>A
4 papers
NM_005660.3
p.A116P
c.346G>C
4 papers
NM_005660.3
p.P118R
c.353C>G
1 paper
NM_005660.3
p.L115H
c.344T>A
1 paper
NM_005660.3
p.K114R
c.341A>G
4 papers
NM_005660.3
p.K114fs
c.340_341fs
7 papers
NM_005660.3
p.L120fs
c.358_359fs
1 paper
NM_005660.3
p.L113ins0
c.337_339dupCTC
3 papers
NM_005660.3
p.T112_L113insFs
c.335_339dup5
2 papers
NM_005660.3
p.L113_K114ins1
c.339_340insCTC
5 papers
NM_005660.3
p.L120P
c.359T>C
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