Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.S308F

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
8 papers
NM_005660.3
p.S308F
c.923C>T
Surrounding Variants
2 papers
NM_005660.3
p.S308fs
c.922_923fs
1 paper
NM_005660.3
p.L307L
c.921G>A
1 paper
NM_005660.3
p.V306_V310ins1
c.918_929dup12
3 papers
NM_005660.3
p.V306_V310del0
c.918_929del12
2 papers
NM_005660.3
p.S304delFs
c.911_912delGG
5 papers
NM_005660.3
p.S312F
c.935C>T
1 paper
NM_005660.3
p.S304F
c.911C>T
5 papers
NM_005660.3
p.S312Y
c.935C>A
1 paper
NM_005660.3
p.S304Y
c.911C>A
8 papers
NM_005660.3
p.S304P
c.910T>C
4 papers
NM_005660.3
p.L303P
c.908T>C
7 papers
NM_005660.3
p.S302F
c.905C>T
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