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.E238_I239insA

c.712_716ins3

Surrounding Variants

1 paper

NM_000049.4

p.G237_E238insA

c.709_713ins3

1 paper

NM_000049.4

p.E235K

c.703G>A

1 paper

NM_000049.4

p.D234fs

c.700_701fs

5 papers

NM_000049.4

p.R233insFs

c.698_699insC

1 paper

NM_000049.4

p.R233fs

c.697_698fs

3 papers

NM_000049.4

p.I243S

c.728T>G

1 paper

NM_000049.4

p.P232S

c.694C>T

8 papers

NM_000049.4

p.H244R

c.731A>G

2 papers

NM_000049.4

p.H244L

c.731A>T

65 papers

NM_000049.4

p.Y231*

c.693C>A

57 papers

NM_000049.4

p.Y231*

c.693C>G

11 papers

NM_000049.4

p.Y231Y

c.693C>T