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

1 paper

NM_000049.4

p.C310G

c.928T>G

Surrounding Variants

1 paper

NM_000049.4

p.R309S

c.925C>A

1 paper

NM_000049.4

p.R309fs

c.925_926fs

4 papers

NM_000049.4

p.I308delFs

c.924delT

1 paper

NM_000049.4

p.I308fs

c.922_923fs

1 paper

NM_000049.4

p.S307S

c.921T>C

1 paper

NM_000049.4

p.I308delFs

c.922delA

2 papers

NM_000049.4

p.S307fs

c.919_920fs

1 paper

NM_000049.4

p.H313fs

c.937_938fs

1 paper

NM_000049.4

p.S307del1

c.919_921delAGT

1 paper

NM_000049.4

p.H313delFs

c.939delT

5 papers

NM_000049.4

p.*314W

c.941A>G

1 paper

NM_000049.4

p.*314L

c.941A>T