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.G247W

c.739G>T

Surrounding Variants

1 paper

NM_000263.4

p.A246P

c.736G>C

1 paper

NM_000263.4

p.A246fs

c.736_737fs

4 papers

NM_000263.4

p.H248R

c.743A>G

1 paper

NM_000263.4

p.F245L

c.735C>A

2 papers

NM_000263.4

p.F245L

c.735C>G

1 paper

NM_000263.4

p.A246delFs

c.736delG

1 paper

NM_000263.4

p.F245L

c.733T>C

1 paper

NM_000263.4

p.P250S

c.748C>T

1 paper

NM_000263.4

p.A244T

c.730G>A

1 paper

NM_000263.4

p.E251_A252del1

c.752_754delAGG

1 paper

NM_000263.4

p.P243S

c.727C>T

2 papers

NM_000263.4

p.E251K

c.751G>A