Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A1
Variant:p.A30P

SLC35A1

114 papers

RefSeq Summary

The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported ...

Pfam Domains

Nuc_sug_transpaa 8–314UCSCNucleotide-sugar transporter

Gene Aliases

HGNC Name

solute carrier family 35 member A1

HGNC Alias Symbols

CMPST; CMP-Sia-Tr

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006416.5
p.A30P
c.88G>C
Surrounding Variants
1 paper
NM_006416.5
p.L31delFs
c.92delT
1 paper
NM_006416.5
p.A24T
c.70G>A
1 paper
NM_006416.5
p.D38H
c.112G>C
1 paper
NM_006416.5
p.V19_M20insFs
c.57_58insAT
2 papers
NM_006416.5
p.F43Y
c.128T>A
4 papers
NM_006416.5
p.T45A
c.133A>G
1 paper
NM_006416.5
p.A47G
c.140C>G
2 papers
NM_006416.5
p.C49C
c.147T>C
1 paper
NM_006416.5
p.T51K
c.152C>A
1 paper
NM_006416.5
p.E52_V53insFs
c.156_157ins4
1 paper
NM_006416.5
p.N7H
c.19A>C
2 papers
NM_006416.5
p.V53insFs
c.157_158ins4
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