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

2 papers

NM_000263.4

p.R393H

c.1178G>A

Surrounding Variants

1 paper

NM_000263.4

p.R393P

c.1178G>C

1 paper

NM_000263.4

p.R393S

c.1177C>A

2 papers

NM_000263.4

p.Y391C

c.1172A>G

1 paper

NM_000263.4

p.V390delFs

c.1170delG

1 paper

NM_000263.4

p.F397V

c.1189T>G

1 paper

NM_000263.4

p.Q398K

c.1192C>A

2 papers

NM_000263.4

p.Q388*

c.1162C>T

1 paper

NM_000263.4

p.Q388_I403delFs

c.1164_1207del44

1 paper

NM_000263.4

p.G399V

c.1196G>T

1 paper

NM_000263.4

p.S387R

c.1159A>C

1 paper

NM_000263.4

p.E386G

c.1157A>G

1 paper

NM_000263.4

p.E386K

c.1156G>A