Varaico: Literature-Extracted Genetic Variants

Gene:GMDS
Variant:p.F118L

GMDS

46 papers

RefSeq Summary

GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a co...

Pfam Domains

GDP_Man_Dehydaa 27–358UCSCGDP-mannose 4,6 dehydratase

Gene Aliases

HGNC Name

GDP-mannose 4,6-dehydratase

HGNC Alias Symbols

GMD; SDR3E1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001500.4
p.F118L
c.354T>G
Surrounding Variants
1 paper
NM_001500.4
p.F118L
c.354T>A
1 paper
NM_001500.4
p.F118L
c.352T>C
1 paper
NM_001500.4
p.S117F
c.350C>T
1 paper
NM_001500.4
p.D126N
c.376G>A
1 paper
NM_001500.4
p.D126V
c.377A>T
2 papers
NM_001500.4
p.D128N
c.382G>A
1 paper
NM_001500.4
p.Q152*
c.454C>T
1 paper
NM_001500.4
p.E157Q
c.469G>C
1 paper
NM_001500.4
p.I165M
c.495A>G
1 paper
NM_001500.4
p.Y179F
c.536A>T
1 paper
NM_001500.4
p.L199V
c.595C>G
1 paper
NM_001500.4
p.F200C
c.599T>G
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