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.M318K

c.953T>A

Surrounding Variants

1 paper

NM_001253875.2

p.S308Splc

c.924-5T>C

1 paper

NM_001253875.2

p.F304insFs

c.911dupT

1 paper

NM_001253875.2

p.G350E

c.1049G>A

1 paper

NM_001253875.2

p.E387delFs

c.1159delC

1 paper

NM_001253875.2

p.H394_Y395insFs

c.1182_1183insC

1 paper

NM_001253875.2

p.P412insFs

c.1235dupC

1 paper

NM_001253875.2

p.I417insFs

c.1250dupT