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.Y658H

c.1972T>C

Surrounding Variants

1 paper

NM_000263.4

p.Y658F

c.1973A>T

1 paper

NM_000263.4

p.A659fs

c.1975_1976fs

1 paper

NM_000263.4

p.A659V

c.1976C>T

1 paper

NM_000263.4

p.N660D

c.1978A>G

2 papers

NM_000263.4

p.A664V

c.1991C>T

1 paper

NM_000263.4

p.P651_E652insFs

c.1953_1954ins5

7 papers

NM_000263.4

p.G650E

c.1949G>A

1 paper

NM_000263.4

p.P651_E652insFs

c.1953_1954ins4

4 papers

NM_000263.4

p.W649C

c.1947G>C

4 papers

NM_000263.4

p.W649C

c.1947G>T

1 paper

NM_000263.4

p.W649S

c.1946G>C

2 papers

NM_000263.4

p.W649L

c.1946G>T