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.E302*

c.904G>T

Surrounding Variants

1 paper

NM_000263.4

p.E302K

c.904G>A

1 paper

NM_000263.4

p.I300I

c.900C>T

1 paper

NM_000263.4

p.F303Y

c.908T>A

2 papers

NM_000263.4

p.I300T

c.899T>C

1 paper

NM_000263.4

p.G304_H307del0

c.911_919del9

1 paper

NM_000263.4

p.G304V

c.911G>T

1 paper

NM_000263.4

p.T305fs

c.913_914fs

1 paper

NM_000263.4

p.E298A

c.893A>C

2 papers

NM_000263.4

p.D306G

c.917A>G

2 papers

NM_000263.4

p.R297Q

c.890G>A

1 paper

NM_000263.4

p.R297R

c.889C>A

36 papers

NM_000263.4

p.R297*

c.889C>T