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.R580_A582insFs

c.1738_1744dup7

Surrounding Variants

1 paper

NM_000263.4

p.A582T

c.1744G>A

2 papers

NM_000263.4

p.A582P

c.1744G>C

1 paper

NM_000263.4

p.A582fs

c.1744_1745fs

1 paper

NM_000263.4

p.Y575C

c.1724A>G

2 papers

NM_000263.4

p.S573G

c.1717A>G

1 paper

NM_000263.4

p.A589T

c.1765G>A

1 paper

NM_000263.4

p.A589V

c.1766C>T

1 paper

NM_000263.4

p.Q569R

c.1706A>G

2 papers

NM_000263.4

p.Q569K

c.1705C>A

1 paper

NM_000263.4

p.V568G

c.1703T>G

1 paper

NM_000263.4

p.L591P

c.1772T>C

1 paper

NM_000263.4

p.L592S

c.1775T>C