Varaico: Literature-Extracted Genetic Variants

Gene:GFUS
Variant:p.R107C

GFUS

24 papers

RefSeq Summary

Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxyma...

Pfam Domains

Epimeraseaa 10–245UCSCNAD dependent epimerase/dehydratase family

Gene Aliases

HGNC Name

GDP-L-fucose synthase

HGNC Previous Symbol

TSTA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003313.4
p.R107C
c.319C>T
Surrounding Variants
1 paper
NM_003313.4
p.R107H
c.320G>A
2 papers
NM_003313.4
p.F102F
c.306T>C
1 paper
NM_003313.4
p.K121E
c.361A>G
1 paper
NM_003313.4
p.N133S
c.398A>G
1 paper
NM_003313.4
p.D151E
c.453C>G
1 paper
NM_003313.4
p.D151E
c.453C>A
1 paper
NM_003313.4
p.R155Splc
c.465-26G>A
1 paper
NM_003313.4
p.R155Splc
c.465-5C>T
1 paper
NM_003313.4
p.G175R
c.523G>C
1 paper
NM_003313.4
p.G175R
c.523G>A
1 paper
NM_003313.4
p.G209D
c.626G>A
2 papers
NM_003313.4
p.G211E
c.632G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."