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

20 papers

NM_000049.4

p.F295S

c.884T>C

Surrounding Variants

1 paper

NM_000049.4

p.F295C

c.884T>G

1 paper

NM_000049.4

p.A296fs

c.886_887fs

1 paper

NM_000049.4

p.F295insFs

c.885dupT

1 paper

NM_000049.4

p.K297R

c.890A>G

2 papers

NM_000049.4

p.E293fs

c.877_878fs

1 paper

NM_000049.4

p.K292_E293insA

c.874_878ins3

3 papers

NM_000049.4

p.E293_A294del1

c.878_880delAAG

1 paper

NM_000049.4

p.K292_E293delFs

c.876_879del4

1 paper

NM_000049.4

p.E290fs

c.868_869fs

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