Varaico: Literature-Extracted Genetic Variants

Gene:TGDS
Variant:p.N334H

TGDS

40 papers

RefSeq Summary

The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This la...

Pfam Domains

GDP_Man_Dehydaa 21–327UCSCGDP-mannose 4,6 dehydratase

Gene Aliases

HGNC Name

TDP-glucose 4,6-dehydratase

HGNC Alias Symbols

TDPGD; SDR2E1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014305.4
p.N334H
c.1000A>C
Surrounding Variants
1 paper
NM_014305.4
p.I328Splc
c.982+11A>G
2 papers
NM_014305.4
p.E322K
c.964G>A
1 paper
NM_014305.4
p.R315I
c.944G>T
2 papers
NM_014305.4
p.I309fs
c.925_926fs
1 paper
NM_014305.4
p.I309insFs
c.925dupA
1 paper
NM_014305.4
p.M304delFs
c.910delT
1 paper
NM_014305.4
p.M300R
c.899T>G
3 papers
NM_014305.4
p.D299N
c.895G>A
4 papers
NM_014305.4
p.N298D
c.892A>G
1 paper
NM_014305.4
p.D294N
c.880G>A
5 papers
NM_014305.4
p.K270_E271del2
c.808_812del6
1 paper
NM_014305.4
p.T244_L246delFs
c.731_738del8
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