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.N23fs

c.67_68fs

Surrounding Variants

1 paper

NM_000049.4

p.N23insFs

c.68_69insT

1 paper

NM_000049.4

p.N23delFs

c.69delT

1 paper

NM_000049.4

p.E24K

c.70G>A

1 paper

NM_000049.4

p.E24A

c.71A>C

6 papers

NM_000049.4

p.E24G

c.71A>G

1 paper

NM_000049.4

p.E24delFs

c.72delG

4 papers

NM_000049.4

p.H21P

c.62A>C

2 papers

NM_000049.4

p.E24D

c.72G>C

2 papers

NM_000049.4

p.E24D

c.72G>T

2 papers

NM_000049.4

p.T20N

c.59C>A

3 papers

NM_000049.4

p.G19G

c.57A>T

21 papers

NM_000049.4

p.G27R

c.79G>A