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.P415Splc

c.1245-45G>C

Surrounding Variants

1 paper

NM_000181.4

p.P415Splc

c.1244+1G>A

1 paper

NM_000181.4

p.P415Splc

c.1244+79C>T

3 papers

NM_000181.4

p.P415L

c.1244C>T

16 papers

NM_000181.4

p.P415L

c.1244C>T

1 paper

NM_000181.4

p.L414L

c.1240C>T

1 paper

NM_000181.4

p.A413A

c.1239G>A

1 paper

NM_000181.4

p.G411insFs

c.1231dupG

1 paper

NM_000181.4

p.G409S

c.1225G>A

1 paper

NM_000181.4

p.V421insFs

c.1261_1262insTA

1 paper

NM_000181.4

p.V421I

c.1261G>A

1 paper

NM_000181.4

p.N420del1

c.1258_1259delGTT

1 paper

NM_000181.4

p.P408L

c.1223C>T