Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.F324fs

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.F324fs
c.970_971fs
Surrounding Variants
8 papers
NM_005660.3
p.F324delFs
c.972delA
1 paper
NM_005660.3
p.L326_G327delFs
c.978_979delCA
1 paper
NM_005660.3
p.G329R
c.985G>C
1 paper
NM_005660.3
p.G329R
c.985G>A
1 paper
NM_005660.3
p.F318Y
c.953T>A
5 papers
NM_005660.3
p.G317delFs
c.950delC
1 paper
NM_005660.3
p.V331L
c.991G>C
16 papers
NM_005660.3
p.V331I
c.991G>A
6 papers
NM_005660.3
p.G317fs
c.949_950fs
1 paper
NM_005660.3
p.I332V
c.994A>G
7 papers
NM_005660.3
p.L315P
c.944T>C
1 paper
NM_005660.3
p.A334V
c.1001C>T
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