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

4 papers

NM_000263.4

p.V77G

c.230T>G

Surrounding Variants

2 papers

NM_000263.4

p.R78ins8

c.233_234ins24

1 paper

NM_000263.4

p.R78insFs

c.233_234ins23

1 paper

NM_000263.4

p.G79S

c.235G>A

7 papers

NM_000263.4

p.G79C

c.235G>T

1 paper

NM_000263.4

p.G79_G82delFs

c.236_246del11

1 paper

NM_000263.4

p.G79insFs

c.237dupC

3 papers

NM_000263.4

p.V75fs

c.223_224fs

1 paper

NM_000263.4

p.V75fs

c.223_224fs

2 papers

NM_000263.4

p.R74H

c.221G>A

1 paper

NM_000263.4

p.R74P

c.221G>C

1 paper

NM_000263.4

p.R74ins2

c.221_222ins6

16 papers

NM_000263.4

p.R74C

c.220C>T