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.P217delFs

c.650_651delCC

Surrounding Variants

1 paper

NM_000049.4

p.P217fs

c.649_650fs

9 papers

NM_000049.4

p.C218*

c.654C>A

1 paper

NM_000049.4

p.A219T

c.655G>A

1 paper

NM_000049.4

p.A219V

c.656C>T

8 papers

NM_000049.4

p.E214*

c.640G>T

15 papers

NM_000049.4

p.K213E

c.637A>G

2 papers

NM_000049.4

p.G212Splc

c.635-1G>C

1 paper

NM_000049.4

p.Y223insFs

c.667_668insT

1 paper

NM_000049.4

p.Y223D

c.667T>G

2 papers

NM_000049.4

p.I226T

c.677T>C

1 paper

NM_000049.4

p.E227E

c.681G>A

1 paper

NM_000049.4

p.D230A

c.689A>C