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

5 papers

NM_000263.4

p.R482Q

c.1445G>A

Surrounding Variants

25 papers

NM_000263.4

p.R482W

c.1444C>T

1 paper

NM_000263.4

p.R482R

c.1446G>A

1 paper

NM_000263.4

p.Y483insFs

c.1447dupT

2 papers

NM_000263.4

p.Y483insFs

c.1448_1449insT

1 paper

NM_000263.4

p.R481W

c.1441C>T

1 paper

NM_000263.4

p.V485insFs

c.1453dupG

1 paper

NM_000263.4

p.A480G

c.1439C>G

3 papers

NM_000263.4

p.A480T

c.1438G>A

1 paper

NM_000263.4

p.A479V

c.1436C>T

1 paper

NM_000263.4

p.V485D

c.1454T>A

4 papers

NM_000263.4

p.A479T

c.1435G>A

1 paper

NM_000263.4

p.S486F

c.1457C>T