Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.Q197*

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
6 papers
NM_005660.3
p.Q197*
c.589C>T
Surrounding Variants
1 paper
NM_005660.3
p.L195L
c.583C>T
1 paper
NM_005660.3
p.P192_P194delFs
c.575_581del7
1 paper
NM_005660.3
p.P194L
c.581C>T
2 papers
NM_005660.3
p.A201fs
c.601_602fs
1 paper
NM_005660.3
p.A201delFs
c.601delC
1 paper
NM_005660.3
p.G202S
c.604G>A
1 paper
NM_001282651.2
p.A212_G219delFs
c.636_657del22
2 papers
NM_005660.3
p.P192fs
c.574_575fs
1 paper
NM_005660.3
p.G191fs
c.571_572fs
3 papers
NM_005660.3
p.G190_G191delFs
c.569_572del4
1 paper
NM_005660.3
p.G191V
c.572G>T
4 papers
NM_005660.3
p.L203fs
c.607_608fs
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