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.K728insFs

c.2182dupA

Surrounding Variants

1 paper

NM_000263.4

p.K729del1

c.2185_2186delAAG

2 papers

NM_000263.4

p.K729Q

c.2185A>C

1 paper

NM_000263.4

p.K729R

c.2186A>G

2 papers

NM_000263.4

p.I730delFs

c.2190delC

1 paper

NM_000263.4

p.F731V

c.2191T>G

2 papers

NM_000263.4

p.F731fs

c.2191_2192fs

2 papers

NM_000263.4

p.L732delFs

c.2194delC

1 paper

NM_000263.4

p.D722N

c.2164G>A

1 paper

NM_000263.4

p.R720Q

c.2159G>A

1 paper

NM_000263.4

p.R720P

c.2159G>C

2 papers

NM_000263.4

p.P719P

c.2157G>A

1 paper

NM_000263.4

p.P719L

c.2156C>T