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.I170V

c.508A>G

Surrounding Variants

1 paper

NM_000181.4

p.I170F

c.508A>T

3 papers

NM_000181.4

p.I170N

c.509T>A

1 paper

NM_000181.4

p.A171T

c.511G>A

2 papers

NM_000181.4

p.R167*

c.499C>T

2 papers

NM_000181.4

p.S164P

c.490T>C

44 papers

NM_000181.4

p.L176F

c.526C>T

1 paper

NM_000181.4

p.P163P

c.489C>A

1 paper

NM_000181.4

p.P163S

c.487C>T

1 paper

NM_000181.4

p.L162fs

c.484_485fs

2 papers

NM_000181.4

p.T177I

c.530C>T

1 paper

NM_000181.4

p.L162delFs

c.484delG

2 papers

NM_000181.4

p.G160delFs

c.479_480delCC