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.G17A

c.50G>C

Surrounding Variants

1 paper

NM_000263.4

p.G17_E25insFs

c.49_73dup25

1 paper

NM_000263.4

p.A16V

c.47C>T

1 paper

NM_000263.4

p.A18V

c.53C>T

1 paper

NM_000263.4

p.G20_A22delFs

c.59_66del8

1 paper

NM_000263.4

p.A21P

c.61G>C

1 paper

NM_000263.4

p.L13_G17del0

c.39_50del12

1 paper

NM_000263.4

p.V12G

c.35T>G

1 paper

NM_000263.4

p.G23S

c.67G>A

1 paper

NM_000263.4

p.V12_G19insFs

c.34_56dup23

1 paper

NM_000263.4

p.V10M

c.28G>A

1 paper

NM_000263.4

p.E25fs

c.73_74fs

1 paper

NM_000263.4

p.A9E

c.26C>A