Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A3
Variant:p.G187C

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
6 papers
NM_012243.3
p.G187C
c.559G>T
Surrounding Variants
1 paper
NM_012243.3
p.G190E
c.569G>A
1 paper
NM_012243.3
p.G190A
c.569G>C
1 paper
NM_012243.3
p.G190V
c.569G>T
1 paper
NM_012243.3
p.V179L
c.535G>C
1 paper
NM_012243.3
p.V179F
c.535G>T
2 papers
NM_012243.3
p.M177I
c.531G>A
3 papers
NM_012243.3
p.M177I
c.531G>C
2 papers
NM_012243.3
p.M177I
c.531G>T
1 paper
NM_012243.3
p.T200fs
c.598_599fs
1 paper
NM_012243.3
p.T200delFs
c.599delC
4 papers
NM_012243.3
p.Q172*
c.514C>T
NM_001271685.2
p.Q214*
c.640C>T
1 paper
NM_012243.3
p.G215E
c.644G>A
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