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.L498P

c.1493T>C

Surrounding Variants

1 paper

NM_000263.4

p.R499W

c.1495C>T

1 paper

NM_000263.4

p.R499Q

c.1496G>A

9 papers

NM_000263.4

p.L497V

c.1489C>G

4 papers

NM_000263.4

p.L496P

c.1487T>C

1 paper

NM_000263.4

p.L496delFs

c.1487delT

1 paper

NM_000263.4

p.R495_Y502insFs

c.1485_1506dup22

4 papers

NM_000263.4

p.V501G

c.1502T>G

1 paper

NM_000263.4

p.W494*

c.1482G>A

1 paper

NM_000263.4

p.W494*

c.1481G>A

1 paper

NM_000263.4

p.N503fs

c.1507_1508fs

1 paper

NM_000263.4

p.A493A

c.1479G>A

1 paper

NM_000263.4

p.N503S

c.1508A>G