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.N379D

c.1135A>G

Surrounding Variants

1 paper

NM_000181.4

p.N379S

c.1136A>G

1 paper

NM_000181.4

p.A378P

c.1132G>C

1 paper

NM_000181.4

p.A380insFs

c.1138_1139ins5

12 papers

NM_000181.4

p.R382C

c.1144C>T

9 papers

NM_000181.4

p.R382H

c.1145G>A

1 paper

NM_000181.4

p.R382R

c.1146T>C

2 papers

NM_000181.4

p.R374R

c.1122C>T

1 paper

NM_000181.4

p.R374H

c.1121G>A

7 papers

NM_000181.4

p.R374C

c.1120C>T

3 papers

NM_000181.4

p.S384N

c.1151G>A

1 paper

NM_000181.4

p.L372M

c.1114C>A

2 papers

NM_000181.4

p.F361_D369del0

c.1081_1107del27