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.D490N

c.1468G>A

Surrounding Variants

1 paper

NM_000181.4

p.D490D

c.1470C>T

1 paper

NM_000181.4

p.A489E

c.1466C>A

1 paper

NM_000181.4

p.D490delFs

c.1470delG

1 paper

NM_000181.4

p.S485_N486delFs

c.1454_1457del4

1 paper

NM_000181.4

p.N486T

c.1457A>C

1 paper

NM_000181.4

p.S485insFs

c.1455dupT

1 paper

NM_000181.4

p.S485S

c.1455T>C

4 papers

NM_000181.4

p.S485F

c.1454C>T

1 paper

NM_000181.4

p.N484S

c.1451A>G

1 paper

NM_000181.4

p.N484D

c.1450A>G

1 paper

NM_000181.4

p.V482M

c.1444G>A

2 papers

NM_000181.4

p.V479_T480del2

c.1435_1439del6