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.R533*

c.1597C>T

Surrounding Variants

1 paper

NM_000263.4

p.R533Q

c.1598G>A

1 paper

NM_000263.4

p.S534Y

c.1601C>A

1 paper

NM_000263.4

p.V536M

c.1606G>A

1 paper

NM_000263.4

p.S528R

c.1584C>A

1 paper

NM_000263.4

p.S528R

c.1584C>G

1 paper

NM_000263.4

p.S528R

c.1582A>C

1 paper

NM_000263.4

p.E538K

c.1612G>A

1 paper

NM_000263.4

p.A539A

c.1617C>T

1 paper

NM_000263.4

p.W540*

c.1619G>A

1 paper

NM_000263.4

p.W540*

c.1620G>A

1 paper

NM_000263.4

p.R541W

c.1621C>T

1 paper

NM_000263.4

p.R541Q

c.1622G>A