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.M406_L407delins

c.1218_1220delinsTAT

Surrounding Variants

1 paper

NM_000263.4

p.M406I

c.1218G>T

3 papers

NM_000263.4

p.H408Y

c.1222C>T

1 paper

NM_000263.4

p.H408Q

c.1224C>A

1 paper

NM_000263.4

p.H408Q

c.1224C>G

7 papers

NM_000263.4

p.W404*

c.1212G>A

1 paper

NM_000263.4

p.W404C

c.1212G>C

1 paper

NM_000263.4

p.W404C

c.1212G>T

1 paper

NM_000263.4

p.N409H

c.1225A>C

7 papers

NM_000263.4

p.W404*

c.1211G>A

2 papers

NM_000263.4

p.N409S

c.1226A>G

3 papers

NM_000263.4

p.I403T

c.1208T>C

4 papers

NM_000263.4

p.F410S

c.1229T>C