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.V609M

c.1825G>A

Surrounding Variants

1 paper

NM_000263.4

p.L610L

c.1828C>T

1 paper

NM_000263.4

p.E608K

c.1822G>A

30 papers

NM_000263.4

p.S612G

c.1834A>G

7 papers

NM_000263.4

p.P604L

c.1811C>T

1 paper

NM_000263.4

p.D613D

c.1839C>T

4 papers

NM_000263.4

p.R615C

c.1843C>T

1 paper

NM_000263.4

p.L602M

c.1804C>A

1 paper

NM_000263.4

p.E601Q

c.1801G>C

1 paper

NM_000263.4

p.L617F

c.1851G>C

1 paper

NM_000263.4

p.L617F

c.1851G>T

1 paper

NM_000263.4

p.S620G

c.1858A>G

2 papers

NM_000263.4

p.S620S

c.1860C>T