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

3 papers

NM_000181.4

p.E540Q

c.1618G>C

Surrounding Variants

3 papers

NM_000181.4

p.E540K

c.1618G>A

4 papers

NM_000181.4

p.S539S

c.1617C>T

11 papers

NM_000181.4

p.E540A

c.1619A>C

1 paper

NM_000181.4

p.E540D

c.1620G>T

1 paper

NM_000181.4

p.E540D

c.1620G>C

1 paper

NM_000181.4

p.S539C

c.1615A>T

2 papers

NM_000181.4

p.I537T

c.1610T>C

1 paper

NM_000181.4

p.I536L

c.1606A>C

1 paper

NM_000181.4

p.T545A

c.1633A>G

4 papers

NM_000181.4

p.Y529C

c.1586A>G

1 paper

NM_000181.4

p.Q551*

c.1651C>T

1 paper

NM_000181.4

p.Q551_D552Splc

c.1653+1G>A