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.R611Q

c.1832G>A

Surrounding Variants

6 papers

NM_000181.4

p.R611W

c.1831C>T

1 paper

NM_000181.4

p.Q612R

c.1835A>G

1 paper

NM_000181.4

p.R613fs

c.1837_1838fs

1 paper

NM_001293104.2

p.Q424*

c.1270C>T

1 paper

NM_000181.4

p.I608M

c.1824C>G

1 paper

NM_000181.4

p.R613delFs

c.1838_1839delTC

2 papers

NM_000181.4

p.G607A

c.1820G>C

3 papers

NM_000181.4

p.K606N

c.1818G>T

3 papers

NM_000181.4

p.K606N

c.1818G>C

1 paper

NM_000181.4

p.S617I

c.1850G>T

1 paper

NM_000181.4

p.N604S

c.1811A>G

1 paper

NM_000181.4

p.N604T

c.1811A>C