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

1–12 of 131 variants

28 papers

NM_000262.3

p.E325K

c.973G>A

13 papers

NM_000262.3

p.R329W

c.985C>T

12 papers

NM_000262.3

p.S160C

c.479C>G

8 papers

NM_000262.3

p.N48I

c.143A>T

8 papers

NM_000262.3

p.R329Q

c.986G>A

7 papers

NM_000262.3

p.E193*

c.577G>T

4 papers

NM_000262.3

p.D94N

c.280G>A

4 papers

NM_000262.3

p.L112L

c.334C>T

3 papers

NM_000262.3

p.D217N

c.649G>A

3 papers

NM_000262.3

p.V233M

c.697G>A

3 papers

NM_000262.3

p.E367K

c.1099G>A

2 papers

NM_000262.3

p.L9L

c.25C>T