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.L93delFs

c.279delG

Surrounding Variants

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

4 papers

NM_000263.4

p.Y92H

c.274T>C

1 paper

NM_000263.4

p.D95H

c.283G>C

2 papers

NM_000263.4

p.C97W

c.291T>G

1 paper

NM_000263.4

p.C97_G98insFs

c.291_292insC

1 paper

NM_000263.4

p.G98insFs

c.292_293insC

1 paper

NM_000263.4

p.G98G

c.294C>A

1 paper

NM_000263.4

p.A87P

c.259G>C

3 papers

NM_000263.4

p.H100R

c.299A>G