Varaico: Literature-Extracted Genetic Variants

Gene:GFUS

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
1–12 of 20 variants
2 papers
NM_003313.4
p.F102F
c.306T>C
2 papers
NM_003313.4
p.G211E
c.632G>A
2 papers
NM_003313.4
p.K275R
c.824A>G
1 paper
NM_003313.4
p.G14A
c.41G>C
1 paper
NM_003313.4
p.R78G
c.232C>G
1 paper
NM_003313.4
p.R107C
c.319C>T
1 paper
NM_003313.4
p.R107H
c.320G>A
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
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