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

5 papers

NM_000181.4

p.E150K

c.448G>A

Surrounding Variants

1 paper

NM_000181.4

p.F149del1

c.445_446delGAA

1 paper

NM_000181.4

p.F149F

c.447C>T

23 papers

NM_000181.4

p.D152N

c.454G>A

7 papers

NM_000181.4

p.P148S

c.442C>T

1 paper

NM_000181.4

p.D152G

c.455A>G

1 paper

NM_000181.4

p.D152A

c.455A>C

1 paper

NM_000181.4

p.G145S

c.433G>A

2 papers

NM_000181.4

p.G144R

c.430G>C

2 papers

NM_000181.4

p.G144R

c.430G>A

2 papers

NM_000181.4

p.H142Y

c.424C>T

1 paper

NM_000181.4

p.E141A

c.422A>C

1 paper

NM_000181.4

p.V159A

c.476T>C