Varaico: Literature-Extracted Genetic Variants

NAGA

139 papers

RefSeq Summary

NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Sch...

Pfam Domains

Melibiase_2aa 25–308UCSCAlpha galactosidase A

Melibiase_2_Caa 311–394UCSCAlpha galactosidase A C-terminal beta sandwich domain

Gene Aliases

HGNC Name

alpha-N-acetylgalactosaminidase

HGNC Alias Symbol

D22S674

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_000262.3

p.S160C

c.479C>G

Surrounding Variants

1 paper

NM_000262.3

p.T161I

c.482C>T

2 papers

NM_000262.3

p.R165W

c.493C>T

1 paper

NM_000262.3

p.L153L

c.459C>T

1 paper

NM_000262.3

p.E147K

c.439G>A

1 paper

NM_000262.3

p.A146A

c.438C>T

1 paper

NM_000262.3

p.Q143L

c.428A>T

1 paper

NM_000262.3

p.D136N

c.406G>A

1 paper

NM_000262.3

p.G132D

c.395G>A

1 paper

NM_000262.3

p.T126I

c.377C>T

1 paper

NM_000262.3

p.T126S

c.377C>G

1 paper

NM_000262.3

p.T126S

c.376A>T

1 paper

NM_000262.3

p.A120A

c.360G>A