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

2 papers

NM_000049.4

p.E40K

c.118G>A

Surrounding Variants

1 paper

NM_000049.4

p.G38D

c.113G>A

1 paper

NM_000049.4

p.Q42K

c.124C>A

4 papers

NM_000049.4

p.Q42R

c.125A>G

1 paper

NM_000049.4

p.T44A

c.130A>G

1 paper

NM_000049.4

p.E36*

c.106G>T

1 paper

NM_000049.4

p.L35L

c.105A>T

1 paper

NM_000049.4

p.G45E

c.134G>A

1 paper

NM_000049.4

p.L35ins1

c.103_104insCCC

1 paper

NM_000049.4

p.L46P

c.137T>C

1 paper

NM_000049.4

p.W34_L46del13

c.100_137del39

1 paper

NM_000049.4

p.H33N

c.97C>A

1 paper

NM_000049.4

p.E47K

c.139G>A