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

17 papers

NM_000263.4

p.R565P

c.1694G>C

Surrounding Variants

27 papers

NM_000263.4

p.R565Q

c.1694G>A

8 papers

NM_000263.4

p.R565L

c.1694G>T

1 paper

NM_000263.4

p.R565R

c.1693C>A

1 paper

NM_000263.4

p.R565G

c.1693C>G

28 papers

NM_000263.4

p.R565W

c.1693C>T

3 papers

NM_000263.4

p.Q566*

c.1696C>T

1 paper

NM_000263.4

p.L563H

c.1688T>A

1 paper

NM_000263.4

p.V568G

c.1703T>G

2 papers

NM_000263.4

p.Q569K

c.1705C>A

1 paper

NM_000263.4

p.Q569R

c.1706A>G

1 paper

NM_000263.4

p.L561R

c.1682T>G

1 paper

NM_000263.4

p.D559E

c.1677C>A