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.G79A

c.236G>C

Surrounding Variants

1 paper

NM_000049.4

p.G79Splc

c.236+2T>C

1 paper

NM_000049.4

p.F73F

c.219T>C

1 paper

NM_000049.4

p.I72T

c.215T>C

20 papers

NM_000049.4

p.R71H

c.212G>A

2 papers

NM_000049.4

p.R71C

c.211C>T

1 paper

NM_000049.4

p.N70K

c.210T>A

2 papers

NM_000049.4

p.N70S

c.209A>G

1 paper

NM_000049.4

p.L69R

c.206T>G

1 paper

NM_000049.4

p.L69L

c.205C>T

5 papers

NM_000049.4

p.D68A

c.203A>C

1 paper

NM_000049.4

p.D68G

c.203A>G

3 papers

NM_000049.4

p.D68N

c.202G>A