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.P719L

c.2156C>T

Surrounding Variants

1 paper

NM_000263.4

p.P719S

c.2155C>T

2 papers

NM_000263.4

p.P719P

c.2157G>A

1 paper

NM_000263.4

p.Q718H

c.2154G>C

1 paper

NM_000263.4

p.Q718H

c.2154G>T

1 paper

NM_000263.4

p.R720Q

c.2159G>A

1 paper

NM_000263.4

p.R720P

c.2159G>C

1 paper

NM_000263.4

p.D722N

c.2164G>A

1 paper

NM_000263.4

p.Y715S

c.2144A>C

1 paper

NM_000263.4

p.Y715H

c.2143T>C

1 paper

NM_000263.4

p.R714M

c.2141G>T

1 paper

NM_000263.4

p.K712fs

c.2134_2135fs

1 paper

NM_000263.4

p.K712delFs

c.2135delA