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

8 papers

NM_000262.3

p.N48I

c.143A>T

Surrounding Variants

1 paper

NM_000262.3

p.C49R

c.145T>C

1 paper

NM_000262.3

p.D43insFs

c.127_128ins4

1 paper

NM_000262.3

p.D43N

c.127G>A

1 paper

NM_000262.3

p.N41Y

c.121A>T

1 paper

NM_000262.3

p.R37H

c.110G>A

1 paper

NM_000262.3

p.F36S

c.107T>C

1 paper

NM_000262.3

p.F36I

c.106T>A

1 paper

NM_000262.3

p.R35C

c.103C>T

1 paper

NM_000262.3

p.G29delFs

c.85delC

1 paper

NM_000262.3

p.G29D

c.86G>A

1 paper

NM_000262.3

p.P26_P27delFs

c.76_80del5

1 paper

NM_000262.3

p.T25T

c.75A>T