Varaico: Literature-Extracted Genetic Variants

Gene:TGDS
Variant:p.N217K

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.N217K
c.651C>G
Surrounding Variants
1 paper
NM_014305.4
p.N217K
c.651C>A
4 papers
NM_014305.4
p.Y234H
c.700T>C
1 paper
NM_014305.4
p.V238_V239del1
c.714_716delACA
2 papers
NM_014305.4
p.V239del1
c.715_716delTAC
1 paper
NM_014305.4
p.T244_L246delFs
c.731_738del8
5 papers
NM_014305.4
p.K270_E271del2
c.808_812del6
1 paper
NM_014305.4
p.K205N
c.615G>T
1 paper
NM_014305.4
p.K205N
c.615G>C
1 paper
NM_014305.4
p.S193R
c.579C>G
1 paper
NM_014305.4
p.S193R
c.579C>A
1 paper
NM_014305.4
p.S193R
c.577A>C
1 paper
NM_014305.4
p.D294N
c.880G>A
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