Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.G250R

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.G250R
c.748G>A
Surrounding Variants
3 papers
NM_018389.5
p.G250R
c.748G>C
1 paper
NM_018389.5
p.G250E
c.749G>A
1 paper
NM_018389.5
p.E251K
c.751G>A
1 paper
NM_018389.5
p.L247_L249del3
c.739_746del9
1 paper
NM_018389.5
p.R256C
c.766C>T
1 paper
NM_018389.5
p.L243L
c.727C>T
2 papers
NM_018389.5
p.F258L
c.772T>C
1 paper
NM_018389.5
p.F258L
c.774T>A
1 paper
NM_018389.5
p.F258L
c.774T>G
10 papers
NM_018389.5
p.I240V
c.718A>G
1 paper
NM_018389.5
p.I240F
c.718A>T
1 paper
NM_018389.5
p.S263insFs
c.787_788insC
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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."