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

2 papers

NM_000263.4

p.A547T

c.1639G>A

Surrounding Variants

1 paper

NM_000263.4

p.P548L

c.1643C>T

4 papers

NM_000263.4

p.L550P

c.1649T>C

1 paper

NM_000263.4

p.L542P

c.1625T>C

1 paper

NM_000263.4

p.L542R

c.1625T>G

1 paper

NM_000263.4

p.R541R

c.1623G>A

1 paper

NM_000263.4

p.R541Q

c.1622G>A

1 paper

NM_000263.4

p.R541W

c.1621C>T

1 paper

NM_000263.4

p.W540*

c.1620G>A

1 paper

NM_000263.4

p.W540*

c.1619G>A

1 paper

NM_000263.4

p.A539A

c.1617C>T

1 paper

NM_000263.4

p.P554P

c.1662C>T

2 papers

NM_000263.4

p.A555T

c.1663G>A