Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.V206fs

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.V206fs
c.616_617fs
Surrounding Variants
2 papers
NM_005660.3
p.V206I
c.616G>A
4 papers
NM_005660.3
p.P194_V206insFs
c.580_616dup37
1 paper
NM_005660.3
p.V206A
c.617T>C
1 paper
NM_005660.3
p.A205A
c.615C>T
3 papers
NM_005660.3
p.V206delFs
c.617delA
3 papers
NM_005660.3
p.R193_A204del12
c.577_611del36
2 papers
NM_005660.3
p.V206_V207delFs
c.617_620del4
1 paper
NM_005660.3
p.A208T
c.622G>A
1 paper
NM_005660.3
p.L203R
c.608T>G
4 papers
NM_005660.3
p.S209P
c.625T>C
4 papers
NM_005660.3
p.L203fs
c.607_608fs
3 papers
NM_005660.3
p.A201_G202insFs
c.603_606dup4
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