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

1 paper

NM_000263.4

p.Q355L

c.1064A>T

Surrounding Variants

1 paper

NM_000263.4

p.Q355K

c.1063C>A

1 paper

NM_000263.4

p.Q355E

c.1063C>G

2 papers

NM_000263.4

p.H356P

c.1067A>C

1 paper

NM_000263.4

p.F354S

c.1061T>C

1 paper

NM_000263.4

p.F354V

c.1060T>G

2 papers

NM_000263.4

p.L353V

c.1057C>G

8 papers

NM_000263.4

p.P358L

c.1073C>T

1 paper

NM_000263.4

p.G351A

c.1052G>C

1 paper

NM_000263.4

p.F360delFs

c.1080delC

2 papers

NM_000263.4

p.Q350*

c.1048C>T

4 papers

NM_000263.4

p.W361R

c.1081T>A

4 papers

NM_000263.4

p.W361R

c.1081T>C