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

12 papers

NM_000263.4

p.E153K

c.457G>A

Surrounding Variants

2 papers

NM_000263.4

p.E153*

c.457G>T

2 papers

NM_000263.4

p.E153fs

c.457_458fs

1 paper

NM_000263.4

p.R152Q

c.455G>A

1 paper

NM_000263.4

p.I154V

c.460A>G

2 papers

NM_000263.4

p.R152*

c.454C>T

1 paper

NM_000263.4

p.I154T

c.461T>C

2 papers

NM_000263.4

p.I154R

c.461T>G

1 paper

NM_000263.4

p.R149H

c.446G>A

3 papers

NM_000263.4

p.W156C

c.468G>C

3 papers

NM_000263.4

p.W156C

c.468G>T

1 paper

NM_000263.4

p.R149C

c.445C>T

1 paper

NM_000263.4

p.R149_W150delFs

c.445_448del4