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

2 papers

NM_000181.4

p.A640ins1

c.1918_1919insTAG

Surrounding Variants

1 paper

NM_000181.4

p.A640V

c.1919C>T

1 paper

NM_000181.4

p.A640G

c.1919C>G

1 paper

NM_000181.4

p.V639_A640ins0

c.1916_1918dupTAG

1 paper

NM_001293105.2

p.Q424*

c.1270C>T

2 papers

NM_000181.4

p.R634S

c.1902G>T

1 paper

NM_000181.4

p.N631S

c.1892A>G

8 papers

NM_000181.4

p.L649P

c.1946T>C

1 paper

NM_000181.4

p.K628K

c.1884G>A

16 papers

NM_000181.4

p.W627C

c.1881G>T

16 papers

NM_000181.4

p.W627C

c.1881G>C

6 papers

NM_000181.4

p.Y626H

c.1876T>C

3 papers

NM_000181.4

p.R625delFs

c.1874_1875delTC