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

1 paper

NM_000262.3

p.R97G

c.289C>G

Surrounding Variants

1 paper

NM_000262.3

p.D94E

c.282T>G

2 papers

NM_000262.3

p.D94E

c.282T>A

4 papers

NM_000262.3

p.D94N

c.280G>A

2 papers

NM_000262.3

p.P93P

c.279G>A

1 paper

NM_000262.3

p.I102T

c.305T>C

1 paper

NM_000262.3

p.R90C

c.268C>T

1 paper

NM_000262.3

p.Y108F

c.323A>T

1 paper

NM_000262.3

p.Y108_V109Splc

c.324+1G>A

1 paper

NM_000262.3

p.G83S

c.247G>A

1 paper

NM_000262.3

p.W81*

c.243G>A

1 paper

NM_000262.3

p.W81S

c.242G>C

1 paper

NM_000262.3

p.W81*

c.242G>A