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.P554P

c.1662C>T

Surrounding Variants

2 papers

NM_000263.4

p.A555T

c.1663G>A

1 paper

NM_000263.4

p.F556delFs

c.1668delC

1 paper

NM_000263.4

p.R557C

c.1669C>T

1 paper

NM_000263.4

p.R557L

c.1670G>T

6 papers

NM_000263.4

p.Y558*

c.1674C>A

6 papers

NM_000263.4

p.Y558*

c.1674C>G

1 paper

NM_000263.4

p.D559N

c.1675G>A

1 paper

NM_000263.4

p.D559H

c.1675G>C

1 paper

NM_000263.4

p.D559Y

c.1675G>T

4 papers

NM_000263.4

p.L550P

c.1649T>C

1 paper

NM_000263.4

p.D559E

c.1677C>A

1 paper

NM_000263.4

p.D559E

c.1677C>G