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

7 papers

NM_000262.3

p.E193*

c.577G>T

Surrounding Variants

1 paper

NM_000262.3

p.G194G

c.582C>T

1 paper

NM_000262.3

p.W189delFs

c.567delC

1 paper

NM_000262.3

p.P197P

c.591C>A

1 paper

NM_000262.3

p.P198A

c.592C>G

1 paper

NM_000262.3

p.P198T

c.592C>A

1 paper

NM_000262.3

p.P198insFs

c.593dupC

1 paper

NM_000262.3

p.P198fs

c.592_593fs

1 paper

NM_000262.3

p.R199_V200Splc

c.597+3A>G

1 paper

NM_000262.3

p.R199_V200Splc

c.597+4A>G

1 paper

NM_000262.3

p.R181H

c.542G>A

1 paper

NM_000262.3

p.P170P

c.510C>T

1 paper

NM_000262.3

p.G168Splc

c.503-1G>A