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.L35I

c.103C>A

Surrounding Variants

3 papers

NM_000263.4

p.L35F

c.103C>T

1 paper

NM_000263.4

p.L35P

c.104T>C

1 paper

NM_000263.4

p.A34P

c.100G>C

1 paper

NM_000263.4

p.A37insFs

c.109dupG

4 papers

NM_000263.4

p.R38W

c.112C>T

1 paper

NM_000263.4

p.L39_V50del12

c.115_149del36

1 paper

NM_000263.4

p.A31T

c.91G>A

1 paper

NM_000263.4

p.A30T

c.88G>A

2 papers

NM_000263.4

p.E28insFs

c.84dupG

2 papers

NM_000263.4

p.E28K

c.82G>A

2 papers

NM_000263.4

p.P44S

c.130C>T

1 paper

NM_000263.4

p.A45T

c.133G>A