Varaico: Literature-Extracted Genetic Variants

UXS1

43 papers

RefSeq Summary

This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attache...

Pfam Domains

UXS1_Naa 4–78UCSCUDP-glucuronate decarboxylase N-terminal

GDP_Man_Dehydaa 92–387UCSCGDP-mannose 4,6 dehydratase

Gene Aliases

HGNC Name

UDP-glucuronate decarboxylase 1

HGNC Alias Symbols

FLJ23591; UGD; SDR6E1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001253875.2

p.T185T

c.555G>A

Surrounding Variants

1 paper

NM_001253875.2

p.I186T

c.557T>C

2 papers

NM_001253875.2

p.I186N

c.557T>A

NM_025076.5

p.I181N

c.542T>A

1 paper

NM_001253875.2

p.N176T

c.527A>C

1 paper

NM_001253875.2

p.Q160H

c.480G>T

1 paper

NM_001253875.2

p.Q160H

c.480G>C

1 paper

NM_001253875.2

p.G193Splc

c.578-4G>A

1 paper

NM_001253875.2

p.V216V

c.648C>G

2 papers

NM_025076.5

p.R236H

c.707G>A

1 paper

NM_001253875.2

p.Y250Y

c.750C>T

1 paper

NM_001253875.2

p.Y250fs

c.748_749fs