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.A328V

c.983C>T

Surrounding Variants

1 paper

NM_000263.4

p.A329T

c.985G>A

1 paper

NM_000263.4

p.L327F

c.979C>T

1 paper

NM_000263.4

p.A330V

c.989C>T

1 paper

NM_000263.4

p.A330A

c.990C>T

1 paper

NM_000263.4

p.P324L

c.971C>T

1 paper

NM_000263.4

p.T332I

c.995C>T

1 paper

NM_000263.4

p.E323D

c.969G>C

1 paper

NM_000263.4

p.E323D

c.969G>T

5 papers

NM_000263.4

p.V334I

c.1000G>A

4 papers

NM_000263.4

p.V334F

c.1000G>T

1 paper

NM_000263.4

p.S322L

c.965C>T

1 paper

NM_000263.4

p.Y335S

c.1004A>C