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.S278_F279delFs

c.832_835del4

Surrounding Variants

1 paper

NM_000263.4

p.C277F

c.830G>T

1 paper

NM_000263.4

p.S278F

c.833C>T

1 paper

NM_000263.4

p.S276F

c.827C>T

1 paper

NM_000263.4

p.C277_S278del1

c.830_832delGCT

1 paper

NM_000263.4

p.L280fs

c.838_839fs

1 paper

NM_000263.4

p.L281L

c.841C>T

1 paper

NM_000263.4

p.L281P

c.842T>C

3 papers

NM_000263.4

p.A282V

c.845C>T

1 paper

NM_000263.4

p.C273R

c.817T>C

1 paper

NM_000263.4

p.C273delFs

c.817_818delTG

1 paper

NM_000263.4

p.P283Q

c.848C>A

1 paper

NM_000263.4

p.E284insFs

c.850dupG