Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.Y291H

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
1 paper
NM_005660.3
p.Y291H
c.871T>C
Surrounding Variants
1 paper
NM_005660.3
p.V289delFs
c.867delG
1 paper
NM_005660.3
p.V287_V288del2
c.859_863del6
1 paper
NM_005660.3
p.A286V
c.857C>T
1 paper
NM_005660.3
p.A286D
c.857C>A
3 papers
NM_005660.3
p.A286delFs
c.856delC
4 papers
NM_005660.3
p.A286fs
c.856_857fs
1 paper
NM_005660.3
p.A286S
c.856G>T
5 papers
NM_005660.3
p.K297E
c.889A>G
1 paper
NM_005660.3
p.K297Q
c.889A>C
6 papers
NM_005660.3
p.L296del1
c.886_888delGAG
1 paper
NM_005660.3
p.D293_K297delFs
c.878_890del13
1 paper
NM_005660.3
p.A279_L283delFs
c.837_847del11
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