Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.V94V

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.V94V
c.282G>A
Surrounding Variants
1 paper
NM_005660.3
p.K95K
c.285G>A
4 papers
NM_005660.3
p.H96fs
c.286_287fs
1 paper
NM_005660.3
p.H96P
c.287A>C
2 papers
NM_005660.3
p.H96delFs
c.287_288delGT
2 papers
NM_005660.3
p.G92Splc
c.275-1G>T
1 paper
NM_005660.3
p.L99insFs
c.296dupT
4 papers
NM_005660.3
p.L101P
c.302T>C
1 paper
NM_005660.3
p.V107M
c.319G>A
4 papers
NM_005660.3
p.Q108*
c.322C>T
1 paper
NM_005660.3
p.Q108E
c.322C>G
3 papers
NM_005660.3
p.Y109*
c.327T>G
1 paper
NM_005660.3
p.Y109*
c.327T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."