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.K321T

c.962A>C

Surrounding Variants

28 papers

NM_000262.3

p.E325K

c.973G>A

1 paper

NM_000262.3

p.Y327C

c.980A>G

13 papers

NM_000262.3

p.R329W

c.985C>T

8 papers

NM_000262.3

p.R329Q

c.986G>A

1 paper

NM_000262.3

p.L331L

c.993G>T

1 paper

NM_000262.3

p.S332_N333insFs

c.996_997insC

2 papers

NM_000262.3

p.A337T

c.1009G>A

1 paper

NM_000262.3

p.A337V

c.1010C>T

1 paper

NM_000262.3

p.D346N

c.1036G>A

1 paper

NM_000262.3

p.G362W

c.1084G>T

3 papers

NM_000262.3

p.E367K

c.1099G>A

1 paper

NM_000262.3

p.E367_A368Splc

c.1102-2A>G