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.W103R

c.307T>C

Surrounding Variants

2 papers

NM_000263.4

p.W103R

c.307T>A

2 papers

NM_000263.4

p.W103*

c.308G>A

1 paper

NM_000263.4

p.W103*

c.309G>A

1 paper

NM_000263.4

p.W103C

c.309G>C

1 paper

NM_000263.4

p.W103C

c.309G>T

1 paper

NM_000263.4

p.A102S

c.304G>T

1 paper

NM_000263.4

p.V101V

c.303G>A

1 paper

NM_000263.4

p.V101L

c.301G>C

1 paper

NM_000263.4

p.G105A

c.314G>C

3 papers

NM_000263.4

p.H100R

c.299A>G

1 paper

NM_000263.4

p.G98G

c.294C>A

1 paper

NM_000263.4

p.G98insFs

c.292_293insC