Varaico: Literature-Extracted Genetic Variants

Gene:GMDS
Variant:p.K115_I116Splc

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
2 papers
NM_001500.4
p.K115_I116Splc
c.345+5G>A
Surrounding Variants
1 paper
NM_001500.4
p.K115delFs
c.344_345delTT
1 paper
NM_001500.4
p.G109fs
c.325_326fs
1 paper
NM_001500.4
p.L108delFs
c.322delG
1 paper
NM_001500.4
p.E104K
c.310G>A
1 paper
NM_001500.4
p.N79S
c.236A>G
1 paper
NM_001500.4
p.S59*
c.176C>G
1 paper
NM_001500.4
p.S59*
c.176C>A
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