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.W675*

c.2024G>A

Surrounding Variants

2 papers

NM_000263.4

p.W675*

c.2025G>A

2 papers

NM_000263.4

p.R676W

c.2026C>T

11 papers

NM_000263.4

p.R674H

c.2021G>A

3 papers

NM_000263.4

p.R676P

c.2027G>C

1 paper

NM_000263.4

p.R676L

c.2027G>T

8 papers

NM_000263.4

p.R674C

c.2020C>T

1 paper

NM_000263.4

p.P673S

c.2017C>T

1 paper

NM_000263.4

p.A681V

c.2042C>T

1 paper

NM_000263.4

p.N669fs

c.2005_2006fs

1 paper

NM_000263.4

p.A681A

c.2043G>A

9 papers

NM_000263.4

p.L682R

c.2045T>G

1 paper

NM_000263.4

p.A668delFs

c.2003delC