Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.W196fs

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
1 paper
NM_018389.5
p.W196fs
c.586_587fs
Surrounding Variants
4 papers
NM_018389.5
p.W196delFs
c.588delG
1 paper
NM_018389.5
p.S195T
c.583T>A
1 paper
NM_018389.5
p.S195P
c.583T>C
1 paper
NM_018389.5
p.V200I
c.598G>A
1 paper
NM_018389.5
p.A190T
c.568G>A
1 paper
NM_018389.5
p.V203M
c.607G>A
1 paper
NM_018389.5
p.G184D
c.551G>A
1 paper
NM_018389.5
p.C208R
c.622T>C
1 paper
NM_018389.5
p.W182R
c.544T>A
1 paper
NM_018389.5
p.Y215Y
c.645C>T
1 paper
NM_018389.5
p.P221P
c.663G>A
1 paper
NM_018389.5
p.V223M
c.667G>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."