Varaico: Literature-Extracted Genetic Variants

Gene:GMDS

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
1–12 of 50 variants
2 papers
NM_001500.4
p.K115_I116Splc
c.345+5G>A
2 papers
NM_001500.4
p.D128N
c.382G>A
2 papers
NM_001500.4
p.E283K
c.847G>A
1 paper
NM_001500.4
p.M1K
c.2T>A
1 paper
NM_001500.4
p.A2A
c.6A>T
1 paper
NM_001500.4
p.H3Y
c.7C>T
1 paper
NM_001500.4
p.A6T
c.16G>A
1 paper
NM_001500.4
p.A6V
c.17C>T
1 paper
NM_001500.4
p.S10R
c.28A>C
1 paper
NM_001500.4
p.S10R
c.30C>G
1 paper
NM_001500.4
p.S10R
c.30C>A
1 paper
NM_001500.4
p.R23fs
c.67_68fs
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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."