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.V369M

c.1105G>A

Surrounding Variants

1 paper

NM_000263.4

p.V369L

c.1105G>C

2 papers

NM_000263.4

p.V369L

c.1105G>T

1 paper

NM_000263.4

p.I366M

c.1098C>G

1 paper

NM_000263.4

p.G371E

c.1112G>A

1 paper

NM_000263.4

p.Q365*

c.1093C>T

1 paper

NM_000263.4

p.A364A

c.1092C>G

1 paper

NM_000263.4

p.V373V

c.1119G>T

1 paper

NM_000263.4

p.P374S

c.1120C>T

2 papers

NM_000263.4

p.A364delFs

c.1091delC

1 paper

NM_000263.4

p.P374P

c.1122C>T

1 paper

NM_000263.4

p.R375C

c.1123C>T

1 paper

NM_000263.4

p.R375H

c.1124G>A