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.D470H

c.1408G>C

Surrounding Variants

1 paper

NM_000263.4

p.D470V

c.1409A>T

2 papers

NM_000263.4

p.W474G

c.1420T>G

2 papers

NM_000263.4

p.R464Q

c.1391G>A

1 paper

NM_000263.4

p.R464insFs

c.1390_1391insA

2 papers

NM_000263.4

p.R464*

c.1390C>T

2 papers

NM_000263.4

p.S477T

c.1430G>C

1 paper

NM_000263.4

p.G462A

c.1385G>C

1 paper

NM_000263.4

p.G462R

c.1384G>C

4 papers

NM_000263.4

p.A479T

c.1435G>A

1 paper

NM_000263.4

p.A479V

c.1436C>T

1 paper

NM_000263.4

p.E460D

c.1380G>C

1 paper

NM_000263.4

p.E460D

c.1380G>T