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.T232S

c.694A>T

Surrounding Variants

1 paper

NM_000181.4

p.T232P

c.694A>C

1 paper

NM_000181.4

p.T232S

c.695C>G

1 paper

NM_000181.4

p.V233I

c.697G>A

1 paper

NM_000181.4

p.D229G

c.686A>G

1 paper

NM_000181.4

p.D229fs

c.685_686fs

1 paper

NM_000181.4

p.T226T

c.678C>T

1 paper

NM_000181.4

p.T226S

c.677C>G

1 paper

NM_000181.4

p.T226S

c.676A>T

1 paper

NM_000181.4

p.Q239*

c.715C>T

1 paper

NM_000181.4

p.P224P

c.672C>T

1 paper

NM_000181.4

p.P224S

c.670C>T

1 paper

NM_000181.4

p.T222R

c.665C>G