Varaico: Literature-Extracted Genetic Variants

ASPA

364 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help...

Pfam Domains

AstE_AspA_cataa 10–206UCSCSuccinylglutamate desuccinylase/Aspartoacylase catalytic domain

AstE_AspA_hybridaa 218–300UCSCAstE/AspA barrel-sandwich hybrid domain

Gene Aliases

HGNC Name

aspartoacylase

HGNC Alias Symbols

ASP; ACY2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_000049.4

p.Y288C

c.863A>G

Surrounding Variants

1 paper

NM_000049.4

p.Y288N

c.862T>A

1 paper

NM_000049.4

p.Y289F

c.866A>T

1 paper

NM_000049.4

p.Y289*

c.867C>A

1 paper

NM_000049.4

p.Y289*

c.867C>G

1 paper

NM_000049.4

p.E290_K291delFs

c.868_871del4

18 papers

NM_000049.4

p.A287T

c.859G>A

1 paper

NM_000049.4

p.A287P

c.859G>C

1 paper

NM_000049.4

p.A286_A287insFs

c.858_859insG

1 paper

NM_000049.4

p.E290fs

c.868_869fs

1 paper

NM_000049.4

p.K292_E293delFs

c.876_879del4

2 papers

NM_000049.4

p.A286D

c.857C>A

1 paper

NM_000049.4

p.A286insFs

c.857_858insA