Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.V76I

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.V76I
c.226G>A
Surrounding Variants
1 paper
NM_018389.5
p.P73T
c.217C>A
1 paper
NM_018389.5
p.P73S
c.217C>T
1 paper
NM_018389.5
p.T72I
c.215C>T
2 papers
NM_018389.5
p.V83del1
c.247_248delGTG
1 paper
NM_018389.5
p.T85M
c.254C>T
1 paper
NM_018389.5
p.S65G
c.193A>G
2 papers
NM_018389.5
p.K89delFs
c.267delA
1 paper
NM_018389.5
p.G90fs
c.268_269fs
1 paper
NM_018389.5
p.Y61C
c.182A>G
1 paper
NM_018389.5
p.L91L
c.273C>A
2 papers
NM_018389.5
p.N59_K60del1
c.177_179delTAA
1 paper
NM_018389.5
p.S52P
c.154T>C
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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."