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.E367_A368Splc

c.1102-2A>G

Surrounding Variants

1 paper

NM_000262.3

p.D375N

c.1123G>A

1 paper

NM_000262.3

p.D375G

c.1124A>G

1 paper

NM_000262.3

p.E383Q

c.1147G>C

1 paper

NM_000262.3

p.E383A

c.1148A>C

1 paper

NM_000262.3

p.T384A

c.1150A>G

1 paper

NM_000262.3

p.N391D

c.1171A>G

1 paper

NM_000262.3

p.N391S

c.1172A>G

2 papers

NM_000262.3

p.I403T

c.1208T>C

1 paper

NM_000262.3

p.I403I

c.1209C>T

1 paper

NM_000262.3

p.Q410L

c.1229A>T

3 papers

NM_000262.3

p.E367K

c.1099G>A

1 paper

NM_000262.3

p.G362W

c.1084G>T