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

21 papers

NM_000263.4

p.P521L

c.1562C>T

Surrounding Variants

1 paper

NM_000263.4

p.S522P

c.1564T>C

1 paper

NM_000263.4

p.S522F

c.1565C>T

8 papers

NM_000263.4

p.R520W

c.1558C>T

1 paper

NM_000263.4

p.R519R

c.1557G>A

1 paper

NM_000263.4

p.Q524R

c.1571A>G

2 papers

NM_000263.4

p.P516L

c.1547C>T

1 paper

NM_000263.4

p.S515S

c.1545C>T

1 paper

NM_000263.4

p.S528R

c.1582A>C

2 papers

NM_000263.4

p.R514H

c.1541G>A

1 paper

NM_000263.4

p.S528R

c.1584C>A

1 paper

NM_000263.4

p.S528R

c.1584C>G

1 paper

NM_000263.4

p.R514C

c.1540C>T