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

2 papers

NM_000263.4

p.Y140S

c.419A>C

Surrounding Variants

26 papers

NM_000263.4

p.Y140C

c.419A>G

1 paper

NM_000263.4

p.S139S

c.417C>T

3 papers

NM_000263.4

p.S141T

c.421T>A

4 papers

NM_000263.4

p.S141S

c.423T>C

1 paper

NM_000263.4

p.F142del1

c.424_425delTTC

1 paper

NM_000263.4

p.F142L

c.426C>A

1 paper

NM_000263.4

p.T137M

c.410C>T

1 paper

NM_000263.4

p.W144*

c.431G>A

1 paper

NM_000263.4

p.W144*

c.432G>A

1 paper

NM_000263.4

p.V135G

c.404T>G

2 papers

NM_000263.4

p.V135_C136ins16

c.403_407ins48

1 paper

NM_000263.4

p.V135L

c.403G>T