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

3 papers

NM_000262.3

p.D217N

c.649G>A

Surrounding Variants

1 paper

NM_000262.3

p.Y215C

c.644A>G

1 paper

NM_000262.3

p.D220Y

c.658G>T

1 paper

NM_000262.3

p.D220G

c.659A>G

1 paper

NM_000262.3

p.D220A

c.659A>C

1 paper

NM_000262.3

p.W223R

c.667T>C

1 paper

NM_000262.3

p.W223R

c.667T>A

1 paper

NM_000262.3

p.A206A

c.618G>A

1 paper

NM_000262.3

p.W231*

c.692G>A

1 paper

NM_000262.3

p.Y202*

c.606C>G

1 paper

NM_000262.3

p.Y202*

c.606C>A

1 paper

NM_000262.3

p.W231*

c.693G>A

3 papers

NM_000262.3

p.V233M

c.697G>A