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.A618_A619del2

c.1852_1856del6

Surrounding Variants

20 papers

NM_000181.4

p.A619V

c.1856C>T

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_000181.4

p.R625fs

c.1873_1874fs

6 papers

NM_000181.4

p.Y626H

c.1876T>C

3 papers

NM_000181.4

p.R625delFs

c.1874_1875delTC

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.R613fs

c.1837_1838fs

16 papers

NM_000181.4

p.W627C

c.1881G>T

16 papers

NM_000181.4

p.W627C

c.1881G>C