Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A3
Variant:p.V8I

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
1 paper
NM_012243.3
p.V8I
c.22G>A
Surrounding Variants
1 paper
NM_012243.3
p.Y7*
c.21C>A
1 paper
NM_012243.3
p.Y7*
c.21C>G
1 paper
NM_012243.3
p.K6_Q16delFs
c.18_48del31
2 papers
NM_012243.3
p.L13V
c.37T>G
1 paper
NM_001271685.2
p.L36_A37Splc
c.109-1G>T
4 papers
NM_012243.3
p.R25C
c.73C>T
NM_001271685.2
p.R67C
c.199C>T
2 papers
NM_012243.3
p.R25L
c.74G>T
NM_001271685.2
p.R67L
c.200G>T
1 paper
NM_012243.3
p.E33del1
c.97_98delGAA
1 paper
NM_012243.3
p.A42G
c.125C>G
1 paper
NM_012243.3
p.A42V
c.125C>T
1 paper
NM_012243.3
p.V44I
c.130G>A
1 paper
NM_012243.3
p.V44L
c.130G>C
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