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.T222R

c.665C>G

Surrounding Variants

1 paper

NM_000181.4

p.P224S

c.670C>T

1 paper

NM_000181.4

p.P224P

c.672C>T

1 paper

NM_000181.4

p.L220V

c.658C>G

1 paper

NM_000181.4

p.T226S

c.676A>T

1 paper

NM_000181.4

p.T226S

c.677C>G

1 paper

NM_000181.4

p.T226T

c.678C>T

1 paper

NM_000181.4

p.R216Q

c.647G>A

12 papers

NM_000181.4

p.R216W

c.646C>T

1 paper

NM_000181.4

p.R216G

c.646C>G

1 paper

NM_000181.4

p.D229fs

c.685_686fs

1 paper

NM_000181.4

p.D229G

c.686A>G

2 papers

NM_000181.4

p.Y211_L214del4

c.631_641del12