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.P494S

c.1480C>T

Surrounding Variants

1 paper

NM_000181.4

p.P494ins1

c.1480_1481insTAG

1 paper

NM_000181.4

p.P494T

c.1480C>A

10 papers

NM_000181.4

p.Y495C

c.1484A>G

1 paper

NM_000181.4

p.V496L

c.1486G>T

1 paper

NM_000181.4

p.D497E

c.1491T>G

1 paper

NM_000181.4

p.C500F

c.1499G>T

1 paper

NM_000181.4

p.N502K

c.1506C>G

1 paper

NM_000181.4

p.L501_N502insFs

c.1502_1505dup4

1 paper

NM_000181.4

p.N502K

c.1506C>A

1 paper

NM_000181.4

p.Y504H

c.1510T>C

1 paper

NM_000181.4

p.Y504F

c.1511A>T

1 paper

NM_000181.4

p.Y505Y

c.1515C>T