Varaico: Literature-Extracted Genetic Variants

APEH

179 papers

RefSeq Summary

This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by ...

Pfam Domains

APEH_Naa 34–465UCSCAcylamino-acid-releasing enzyme, N-terminal domain

Peptidase_S9aa 517–732UCSCProlyl oligopeptidase family

Gene Aliases

HGNC Name

acylaminoacyl-peptide hydrolase

HGNC Previous Symbols

D3F15S2; DNF15S2; D3S48E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001640.4

p.P98insFs

c.293_294insC

Surrounding Variants

1 paper

NM_001640.4

p.E96fs

c.286_287fs

1 paper

NM_001640.4

p.R95S

c.285A>T

1 paper

NM_001640.4

p.E117K

c.349G>A

1 paper

NM_001640.4

p.E122G

c.365A>G

2 papers

NM_001640.4

p.E125A

c.374A>C

4 papers

NM_001640.4

p.R128R

c.384G>A

1 paper

NM_001640.4

p.N134_L135insFs

c.402_403insC

2 papers

NM_001640.4

p.S156insFs

c.467_468insT

1 paper

NM_001640.4

p.E91A

c.272A>C

1 paper

NM_001640.4

p.P81R

c.242C>G

1 paper

NM_001640.4

p.G80E

c.239G>A

1 paper

NM_001640.4

p.A79A

c.237A>G