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

8 papers

NM_000049.4

p.I16T

c.47T>C

Surrounding Variants

3 papers

NM_000049.4

p.G18R

c.52G>A

3 papers

NM_000049.4

p.G18R

c.52G>C

4 papers

NM_000049.4

p.V14G

c.41T>G

1 paper

NM_000049.4

p.K13K

c.39G>A

3 papers

NM_000049.4

p.G19G

c.57A>T

2 papers

NM_000049.4

p.T20N

c.59C>A

2 papers

NM_000049.4

p.Q12delFs

c.35delA

1 paper

NM_000049.4

p.Q12fs

c.34_35fs

4 papers

NM_000049.4

p.H21P

c.62A>C

1 paper

NM_000049.4

p.I11_Q12insG

c.31_35ins3

6 papers

NM_000049.4

p.I11delFs

c.32delT

1 paper

NM_000049.4

p.Q12_I16delFs

c.34_46del13