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

20 papers

NM_000181.4

p.A619V

c.1856C>T

Surrounding Variants

1 paper

NM_000181.4

p.A618_A619del2

c.1852_1856del6

1 paper

NM_000181.4

p.L621F

c.1861C>T

1 paper

NM_000181.4

p.S617I

c.1850G>T

2 papers

NM_000181.4

p.R623*

c.1867C>T

1 paper

NM_001293104.2

p.Q424*

c.1270C>T

1 paper

NM_000181.4

p.R613delFs

c.1838_1839delTC

1 paper

NM_000181.4

p.R625fs

c.1873_1874fs

1 paper

NM_000181.4

p.R613fs

c.1837_1838fs

6 papers

NM_000181.4

p.Y626H

c.1876T>C

3 papers

NM_000181.4

p.R625delFs

c.1874_1875delTC

1 paper

NM_000181.4

p.Q612R

c.1835A>G

1 paper

NM_000181.4

p.R611Q

c.1832G>A