Varaico: Literature-Extracted Genetic Variants

GUSB

488 papers

RefSeq Summary

This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysos...

Pfam Domains

Glyco_hydro_2_Naa 38–224UCSCGlycosyl hydrolases family 2, sugar binding domain

Glyco_hydro_2aa 226–327UCSCGlycosyl hydrolases family 2

Glyco_hydro_2_Caa 329–631UCSCGlycosyl hydrolases family 2, TIM barrel domain

Gene Aliases

HGNC Name

glucuronidase beta

HGNC Previous Name

glucuronidase, beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000181.4

p.H425P

c.1274A>C

Surrounding Variants

5 papers

NM_000181.4

p.H424Y

c.1270C>T

1 paper

NM_000181.4

p.L423V

c.1267C>G

1 paper

NM_000181.4

p.V421insFs

c.1261_1262insTA

1 paper

NM_000181.4

p.V421I

c.1261G>A

1 paper

NM_000181.4

p.N420del1

c.1258_1259delGTT

1 paper

NM_000181.4

p.M430T

c.1289T>C

1 paper

NM_000181.4

p.E431K

c.1291G>A

1 paper

NM_000181.4

p.E432K

c.1294G>A

1 paper

NM_000181.4

p.V433M

c.1297G>A

1 paper

NM_001293105.2

p.M211_V214del4

c.631_641del12

6 papers

NM_000181.4

p.R435P

c.1304G>C

2 papers

NM_000181.4

p.R435H

c.1304G>A