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.R177_V178Splc

c.531+1G>A

Surrounding Variants

3 papers

NM_000263.4

p.R177_V178Splc

c.531+1G>C

4 papers

NM_000263.4

p.R177W

c.529C>T

2 papers

NM_000263.4

p.R177_V178Splc

c.531+5G>A

1 paper

NM_000263.4

p.Q176R

c.527A>G

1 paper

NM_000263.4

p.R177_V178Splc

c.531+6T>C

1 paper

NM_000263.4

p.Q176E

c.526C>G

1 paper

NM_000263.4

p.Q176*

c.526C>T

1 paper

NM_000263.4

p.I174V

c.520A>G

1 paper

NM_000263.4

p.E172Q

c.514G>C

1 paper

NM_000263.4

p.G170G

c.510C>T

1 paper

NM_000263.4

p.G170D

c.509G>A

1 paper

NM_000263.4

p.G170A

c.509G>C