Varaico: Literature-Extracted Genetic Variants

NAGLU

432 papers

RefSeq Summary

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysa...

Pfam Domains

NAGLU_Naa 30–116UCSCAlpha-N-acetylglucosaminidase (NAGLU) N-terminal domain

NAGLUaa 130–465UCSCAlpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain

NAGLU_Caa 474–733UCSCAlpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

Gene Aliases

HGNC Name

N-acetyl-alpha-glucosaminidase

HGNC Alias Symbol

NAG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000263.4

p.A87P

c.259G>C

Surrounding Variants

1 paper

NM_000263.4

p.A84_A85insFs

c.252_253ins19

1 paper

NM_000263.4

p.A84G

c.251C>G

1 paper

NM_000263.4

p.G82G

c.246C>G

1 paper

NM_000263.4

p.G82D

c.245G>A

1 paper

NM_000263.4

p.G82A

c.245G>C

4 papers

NM_000263.4

p.Y92H

c.274T>C

1 paper

NM_000263.4

p.T81A

c.241A>G

1 paper

NM_000263.4

p.L93delFs

c.279delG

1 paper

NM_000263.4

p.R94G

c.280C>G

1 paper

NM_000263.4

p.R94C

c.280C>T

1 paper

NM_000263.4

p.R94P

c.281G>C

1 paper

NM_000263.4

p.R94_D95delins

c.281_283delinsCCC