Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.W323*

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
4 papers
NM_018389.5
p.W323*
c.968G>A
Surrounding Variants
5 papers
NM_018389.5
p.W323*
c.969G>A
1 paper
NM_018389.5
p.W323_W324insT
c.967_971ins3
2 papers
NM_018389.5
p.Y314*
c.942C>A
2 papers
NM_018389.5
p.Y314*
c.942C>G
6 papers
NM_018389.5
p.Y337C
c.1010A>G
15 papers
NM_018389.5
p.T308R
c.923C>G
1 paper
NM_018389.5
p.T338I
c.1013C>T
1 paper
NM_018389.5
p.G342V
c.1025G>T
1 paper
NM_018389.5
p.K303E
c.907A>G
1 paper
NM_018389.5
p.E344G
c.1031A>G
1 paper
NM_018389.5
p.T301M
c.902C>T
3 papers
NM_018389.5
p.N297K
c.891T>A
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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."