Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.F168del1

SLC35C1

81 papers

RefSeq Summary

This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding d...

Pfam Domains

TPTaa 39–338UCSCTriose-phosphate Transporter family

Gene Aliases

HGNC Name

solute carrier family 35 member C1

HGNC Alias Symbols

FUCT1; FLJ11320

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_018389.5
p.F168del1
c.502_503delTTC
Surrounding Variants
1 paper
NM_018389.5
p.C174C
c.522C>T
1 paper
NM_018389.5
p.Y159C
c.476A>G
1 paper
NM_018389.5
p.N154_V155del1
c.462_464delCGT
2 papers
NM_018389.5
p.R147H
c.440G>A
16 papers
NM_018389.5
p.R147C
c.439C>T
1 paper
NM_018389.5
p.V138V
c.414C>T
1 paper
NM_018389.5
p.N131S
c.392A>G
1 paper
NM_018389.5
p.G126D
c.377G>A
1 paper
NM_018389.5
p.I125I
c.375C>T
1 paper
NM_018389.5
p.P119P
c.357C>A
1 paper
NM_018389.5
p.R108insFs
c.323_324insT
1 paper
NM_018389.5
p.F104L
c.312C>A
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