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.L114insFs

c.340_341insT

Surrounding Variants

5 papers

NM_000263.4

p.P115S

c.343C>T

1 paper

NM_000263.4

p.P113S

c.337C>T

1 paper

NM_000263.4

p.R112P

c.335G>C

1 paper

NM_000263.4

p.V117L

c.349G>C

1 paper

NM_000263.4

p.V117L

c.349G>T

1 paper

NM_000263.4

p.V117A

c.350T>C

1 paper

NM_000263.4

p.V117delFs

c.351delG

1 paper

NM_000263.4

p.V117V

c.351G>A

1 paper

NM_000263.4

p.L110Q

c.329T>A

1 paper

NM_000263.4

p.P118S

c.352C>T

1 paper

NM_000263.4

p.P118L

c.353C>T

1 paper

NM_000263.4

p.P118P

c.354G>C