Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A3

SLC35A3

55 papers

RefSeq Summary

This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing r...

Pfam Domains

Nuc_sug_transpaa 1–313UCSCNucleotide-sugar transporter

Gene Aliases

HGNC Name

solute carrier family 35 member A3

HGNC Previous Names

solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3; solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
6 papers
NM_012243.3
p.G187C
c.559G>T
5 papers
NM_012243.3
p.S296G
c.886A>G
4 papers
NM_012243.3
p.R25C
c.73C>T
4 papers
NM_012243.3
p.Q172*
c.514C>T
3 papers
NM_012243.3
p.M177I
c.531G>C
2 papers
NM_012243.3
p.L13V
c.37T>G
2 papers
NM_012243.3
p.R25L
c.74G>T
2 papers
NM_012243.3
p.R67I
c.200G>T
2 papers
NM_012243.3
p.M177I
c.531G>A
2 papers
NM_012243.3
p.M177I
c.531G>T
2 papers
NM_012243.3
p.Q251_A252Splc
c.753+1G>A
2 papers
NM_012243.3
p.G254A
c.761G>C
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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."