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.L348R

c.1043T>G

Surrounding Variants

1 paper

NM_000263.4

p.L349del1

c.1045_1047delCTC

1 paper

NM_000263.4

p.L349F

c.1045C>T

2 papers

NM_000263.4

p.W347*

c.1041G>A

2 papers

NM_000263.4

p.W347*

c.1040G>A

2 papers

NM_000263.4

p.Q350*

c.1048C>T

1 paper

NM_000263.4

p.V346insFs

c.1036_1037insC

1 paper

NM_000263.4

p.G351A

c.1052G>C

1 paper

NM_000263.4

p.E344K

c.1030G>A

1 paper

NM_000263.4

p.E344*

c.1030G>T

2 papers

NM_000263.4

p.L353V

c.1057C>G

1 paper

NM_000263.4

p.T343_E344insFs

c.1029_1030insT

1 paper

NM_000263.4

p.T343insFs

c.1028_1029insC