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.R398L

c.1193G>T

Surrounding Variants

4 papers

NM_000181.4

p.R398C

c.1192C>T

1 paper

NM_000181.4

p.Y399C

c.1196A>G

1 paper

NM_000181.4

p.Q394R

c.1181A>G

2 papers

NM_000181.4

p.D405N

c.1213G>A

1 paper

NM_001293104.2

p.I211_I214del4

c.631_641del12

1 paper

NM_000181.4

p.E390D

c.1170G>C

1 paper

NM_000181.4

p.E390G

c.1169A>G

1 paper

NM_000181.4

p.E390K

c.1168G>A

17 papers

NM_000181.4

p.P408S

c.1222C>T

1 paper

NM_000181.4

p.P408L

c.1223C>T

1 paper

NM_000181.4

p.G409S

c.1225G>A

1 paper

NM_000181.4

p.G411insFs

c.1231dupG