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

1–12 of 323 variants

86 papers

NM_000049.4

p.E285A

c.854A>C

79 papers

NM_000049.4

p.A305E

c.914C>A

65 papers

NM_000049.4

p.Y231*

c.693C>A

57 papers

NM_000049.4

p.Y231*

c.693C>G

25 papers

NM_000049.4

p.G274R

c.820G>A

24 papers

NM_000049.4

p.G274R

c.820G>C

21 papers

NM_000049.4

p.G27R

c.79G>A

20 papers

NM_000049.4

p.R71H

c.212G>A

20 papers

NM_000049.4

p.F295S

c.884T>C

18 papers

NM_000049.4

p.A287T

c.859G>A

17 papers

NM_000049.4

p.G27R

c.79G>C

17 papers

NM_000049.4

p.Y288C

c.863A>G