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.P44S

c.130C>T

Surrounding Variants

1 paper

NM_000263.4

p.A45T

c.133G>A

1 paper

NM_000263.4

p.A45insFs

c.133_134insA

2 papers

NM_000263.4

p.A45_A46insFs

c.135_136ins16

1 paper

NM_000263.4

p.D47N

c.139G>A

9 papers

NM_000263.4

p.F48L

c.142T>C

3 papers

NM_000263.4

p.F48C

c.143T>G

9 papers

NM_000263.4

p.F48L

c.144C>A

9 papers

NM_000263.4

p.F48L

c.144C>G

2 papers

NM_000263.4

p.V50_S51delFs

c.148_151del4

1 paper

NM_000263.4

p.L39_V50del12

c.115_149del36

4 papers

NM_000263.4

p.R38W

c.112C>T

1 paper

NM_000263.4

p.V52delFs

c.154delG