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

1–12 of 730 variants

36 papers

NM_000263.4

p.R297*

c.889C>T

32 papers

NM_000263.4

p.R626*

c.1876C>T

30 papers

NM_000263.4

p.S612G

c.1834A>G

28 papers

NM_000263.4

p.R565W

c.1693C>T

27 papers

NM_000263.4

p.R565Q

c.1694G>A

27 papers

NM_000263.4

p.R643C

c.1927C>T

26 papers

NM_000263.4

p.Y140C

c.419A>G

25 papers

NM_000263.4

p.R482W

c.1444C>T

21 papers

NM_000263.4

p.P521L

c.1562C>T

17 papers

NM_000263.4

p.R234C

c.700C>T

17 papers

NM_000263.4

p.R565P

c.1694G>C

16 papers

NM_000263.4

p.R74C

c.220C>T