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.E90G

c.269A>G

Surrounding Variants

1 paper

NM_001253875.2

p.D92G

c.275A>G

1 paper

NM_001253875.2

p.L97_I98Splc

c.291+2T>C

1 paper

NM_001253875.2

p.L74insFs

c.221_222insC

1 paper

NM_001253875.2

p.V64I

c.190G>A

1 paper

NM_001253875.2

p.M63I

c.189G>T

1 paper

NM_001253875.2

p.M63I

c.189G>C

1 paper

NM_001253875.2

p.M63I

c.189G>A

1 paper

NM_001253875.2

p.N45D

c.133A>G

1 paper

NM_001253875.2

p.V38D

c.113T>A

1 paper

NM_001253875.2

p.S32Splc

c.95-56G>C