Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.S375F

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
2 papers
NM_005660.3
p.S375F
c.1124C>T
Surrounding Variants
1 paper
NM_005660.3
p.H376R
c.1127A>G
1 paper
NM_005660.3
p.R377L
c.1130G>T
1 paper
NM_005660.3
p.G378V
c.1133G>T
1 paper
NM_005660.3
p.Q372*
c.1114C>T
1 paper
NM_005660.3
p.I381M
c.1143C>G
1 paper
NM_005660.3
p.I381_P384del4
c.1141_1151del12
4 papers
NM_005660.3
p.P364L
c.1091C>T
1 paper
NM_005660.3
p.P364_P365insC
c.1090_1094ins3
2 papers
NM_005660.3
p.P387S
c.1159C>T
1 paper
NM_005660.3
p.P387A
c.1159C>G
1 paper
NM_005660.3
p.P387L
c.1160C>T
1 paper
NM_005660.3
p.P387R
c.1160C>G
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