Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A3
Variant:p.K50E

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.K50E
c.148A>G
Surrounding Variants
1 paper
NM_012243.3
p.K50R
c.149A>G
1 paper
NM_012243.3
p.E47D
c.141A>C
1 paper
NM_012243.3
p.E47D
c.141A>T
1 paper
NM_012243.3
p.E47A
c.140A>C
1 paper
NM_012243.3
p.E47K
c.139G>A
1 paper
NM_012243.3
p.E47Q
c.139G>C
1 paper
NM_012243.3
p.C54S
c.160T>A
1 paper
NM_012243.3
p.C54S
c.161G>C
1 paper
NM_012243.3
p.V44A
c.131T>C
1 paper
NM_012243.3
p.V44I
c.130G>A
1 paper
NM_012243.3
p.V44L
c.130G>C
1 paper
NM_012243.3
p.A42G
c.125C>G
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