Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.W49R

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
3 papers
NM_018389.5
p.W49R
c.145T>C
Surrounding Variants
3 papers
NM_018389.5
p.W49R
c.145T>A
1 paper
NM_018389.5
p.S46P
c.136T>C
1 paper
NM_018389.5
p.S52P
c.154T>C
1 paper
NM_018389.5
p.V45F
c.133G>T
1 paper
NM_018389.5
p.V44M
c.130G>A
2 papers
NM_018389.5
p.N59_K60del1
c.177_179delTAA
1 paper
NM_018389.5
p.L39L
c.115T>C
1 paper
NM_018389.5
p.A38P
c.112G>C
1 paper
NM_018389.5
p.Y61C
c.182A>G
1 paper
NM_018389.5
p.S65G
c.193A>G
6 papers
NM_018389.5
p.E31*
c.91G>T
1 paper
NM_018389.5
p.G30R
c.88G>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."