Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1

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
1–12 of 103 variants
16 papers
NM_018389.5
p.R147C
c.439C>T
15 papers
NM_018389.5
p.T308R
c.923C>G
12 papers
NM_018389.5
p.F168del1
c.502_503delTTC
10 papers
NM_018389.5
p.I240V
c.718A>G
6 papers
NM_018389.5
p.E31*
c.91G>T
6 papers
NM_018389.5
p.Y337C
c.1010A>G
5 papers
NM_018389.5
p.W323*
c.969G>A
4 papers
NM_018389.5
p.W196delFs
c.588delG
4 papers
NM_018389.5
p.W323*
c.968G>A
3 papers
NM_018389.5
p.W49R
c.145T>A
3 papers
NM_018389.5
p.W49R
c.145T>C
3 papers
NM_018389.5
p.I227V
c.679A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."