Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.Q142_V143Splc

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.Q142_V143Splc
c.427-2A>G
Surrounding Variants
1 paper
NM_005660.3
p.T144I
c.431C>T
8 papers
NM_005660.3
p.Y145fs
c.433_434fs
4 papers
NM_005660.3
p.Y145*
c.435C>G
4 papers
NM_005660.3
p.Y145*
c.435C>A
8 papers
NM_005660.3
p.Y145delFs
c.433_434delTA
1 paper
NM_005660.3
p.L147P
c.440T>C
1 paper
NM_005660.3
p.K148E
c.442A>G
1 paper
NM_005660.3
p.L147insFs
c.441dupG
1 paper
NM_005660.3
p.Q142_V143Splc
c.427-20C>T
2 papers
NM_005660.3
p.L150L
c.448C>T
NM_001282649.2
p.L89L
c.265C>T
1 paper
NM_005660.3
p.T152A
c.454A>G
2 papers
NM_005660.3
p.A153E
c.458C>A
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