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.F206_D207delFs

c.618_619delCA

Surrounding Variants

1 paper

NM_000181.4

p.D207A

c.620A>C

2 papers

NM_000181.4

p.F208L

c.622T>C

2 papers

NM_000181.4

p.F206_D207insTG

c.616_620ins6

1 paper

NM_000181.4

p.F209L

c.625T>C

1 paper

NM_000181.4

p.F209L

c.627C>G

1 paper

NM_000181.4

p.F209L

c.627C>A

1 paper

NM_000181.4

p.N210D

c.628A>G

1 paper

NM_000181.4

p.N203insFs

c.607dupA

2 papers

NM_000181.4

p.Y211Y

c.633C>T

1 paper

NM_000181.4

p.Q202R

c.605A>G

1 paper

NM_000181.4

p.V201L

c.601G>C

1 paper

NM_000181.4

p.F200del1

c.598_599delAAA