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

10 papers

NM_000263.4

p.G292R

c.874G>A

Surrounding Variants

10 papers

NM_000263.4

p.G292R

c.874G>C

1 paper

NM_000263.4

p.G292W

c.874G>T

1 paper

NM_000263.4

p.I291T

c.872T>C

1 paper

NM_000263.4

p.I291_G292insC

c.871_875ins3

1 paper

NM_000263.4

p.I291L

c.871A>C

1 paper

NM_000263.4

p.I290V

c.868A>G

1 paper

NM_000263.4

p.L294F

c.880C>T

2 papers

NM_000263.4

p.L296delFs

c.886delC

2 papers

NM_000263.4

p.P289delFs

c.867delC

1 paper

NM_000263.4

p.F288fs

c.862_863fs

1 paper

NM_000263.4

p.R297R

c.889C>A

36 papers

NM_000263.4

p.R297*

c.889C>T