Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A3
Variant:p.G254A

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
Selected Variant
2 papers
NM_012243.3
p.G254A
c.761G>C
Surrounding Variants
1 paper
NM_012243.3
p.G254E
c.761G>A
1 paper
NM_012243.3
p.G254V
c.761G>T
1 paper
NM_012243.3
p.D266V
c.797A>T
1 paper
NM_012243.3
p.S277L
c.830C>T
1 paper
NM_012243.3
p.Q290*
c.868C>T
1 paper
NM_012243.3
p.P294S
c.880C>T
6 papers
NM_001271685.2
p.S338G
c.1012A>G
NM_012243.3
p.S296G
c.886A>G
2 papers
NM_012243.3
p.Q251_A252Splc
c.753+1G>A
1 paper
NM_012243.3
p.F237S
c.710T>C
1 paper
NM_012243.3
p.Y226H
c.676T>C
1 paper
NM_012243.3
p.G215E
c.644G>A
1 paper
NM_012243.3
p.G215V
c.644G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."