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.W252fs

c.754_755fs

Surrounding Variants

1 paper

NM_000049.4

p.D251H

c.751G>C

1 paper

NM_000049.4

p.W252_L255delFs

c.756_765del10

1 paper

NM_000049.4

p.Q250*

c.748C>T

14 papers

NM_000049.4

p.D249V

c.746A>T

1 paper

NM_000049.4

p.L255V

c.763C>G

1 paper

NM_000049.4

p.D249N

c.745G>A

1 paper

NM_000049.4

p.D249Y

c.745G>T

1 paper

NM_000049.4

p.Q248_D249Splc

c.745-2A>G

6 papers

NM_000049.4

p.P257R

c.770C>G

1 paper

NM_000049.4

p.F262V

c.784T>G

1 paper

NM_000049.4

p.F262S

c.785T>C

1 paper

NM_000049.4

p.K268_T269insFs

c.804_805insG