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.D362H

c.1084G>C

Surrounding Variants

1 paper

NM_000181.4

p.D362Y

c.1084G>T

3 papers

NM_000181.4

p.D362N

c.1084G>A

2 papers

NM_000181.4

p.P364S

c.1090C>T

3 papers

NM_000181.4

p.P364L

c.1091C>T

2 papers

NM_000181.4

p.G358G

c.1074G>A

1 paper

NM_000181.4

p.G358R

c.1072G>C

2 papers

NM_000181.4

p.G358R

c.1072G>A

16 papers

NM_000181.4

p.R357*

c.1069C>T

1 paper

NM_000181.4

p.D369del1

c.1105_1106delGTC

1 paper

NM_000181.4

p.D362_D369del0

c.1084_1107del24

2 papers

NM_000181.4

p.F361_D369del0

c.1081_1107del27

1 paper

NM_000181.4

p.L372M

c.1114C>A