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

3 papers

NM_000263.4

p.H227P

c.680A>C

Surrounding Variants

1 paper

NM_000263.4

p.R228W

c.682C>T

1 paper

NM_000263.4

p.Q226_H227Splc

c.679-2A>T

1 paper

NM_000263.4

p.R228Q

c.683G>A

5 papers

NM_000263.4

p.R234G

c.700C>G

17 papers

NM_000263.4

p.R234C

c.700C>T

2 papers

NM_000263.4

p.R234P

c.701G>C

1 paper

NM_000263.4

p.S235delFs

c.703delT

1 paper

NM_000263.4

p.F236_A246del11

c.706_737del33

1 paper

NM_000263.4

p.G237D

c.710G>A

2 papers

NM_000263.4

p.V241M

c.721G>A

1 paper

NM_000263.4

p.V241V

c.723G>A

1 paper

NM_000263.4

p.L242P

c.725T>C