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.S169_E172delFs

c.507_516del10

Surrounding Variants

4 papers

NM_000263.4

p.W168*

c.503G>A

5 papers

NM_000263.4

p.W168*

c.504G>A

1 paper

NM_000263.4

p.S169fs

c.505_506fs

1 paper

NM_000263.4

p.S169fs

c.505_506fs

1 paper

NM_000263.4

p.A167T

c.499G>A

1 paper

NM_000263.4

p.S169N

c.506G>A

1 paper

NM_000263.4

p.S169delFs

c.507delC

2 papers

NM_000263.4

p.G170S

c.508G>A

1 paper

NM_000263.4

p.G170D

c.509G>A

1 paper

NM_000263.4

p.G170A

c.509G>C

3 papers

NM_000263.4

p.G170V

c.509G>T

1 paper

NM_000263.4

p.G170G

c.510C>T