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

5 papers

NM_000263.4

p.E639*

c.1915G>T

Surrounding Variants

2 papers

NM_000263.4

p.Y638_E639insFs

c.1914_1915insT

1 paper

NM_000263.4

p.Q640*

c.1918C>T

1 paper

NM_000263.4

p.Q640R

c.1919A>G

1 paper

NM_000263.4

p.Q640H

c.1920G>C

1 paper

NM_000263.4

p.Q640H

c.1920G>T

1 paper

NM_000263.4

p.N641T

c.1922A>C

2 papers

NM_000263.4

p.D636N

c.1906G>A

1 paper

NM_000263.4

p.S642_T647delFs

c.1926_1941del16

27 papers

NM_000263.4

p.R643C

c.1927C>T

7 papers

NM_000263.4

p.R643H

c.1928G>A

9 papers

NM_000263.4

p.E634K

c.1900G>A

1 paper

NM_000263.4

p.Y644C

c.1931A>G