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.E705K

c.2113G>A

Surrounding Variants

5 papers

NM_000263.4

p.Q706*

c.2116C>T

1 paper

NM_000263.4

p.Q703H

c.2109A>C

1 paper

NM_000263.4

p.Q703H

c.2109A>T

1 paper

NM_000263.4

p.V709I

c.2125G>A

1 paper

NM_000263.4

p.L710V

c.2128C>G

1 paper

NM_000263.4

p.N700delFs

c.2099delA

1 paper

NM_000263.4

p.K712delFs

c.2135delA

1 paper

NM_000263.4

p.K712fs

c.2134_2135fs

1 paper

NM_000263.4

p.D698delFs

c.2092delG

1 paper

NM_000263.4

p.R714M

c.2141G>T

1 paper

NM_000263.4

p.H695Y

c.2083C>T

1 paper

NM_000263.4

p.Y715H

c.2143T>C