Varaico: Literature-Extracted Genetic Variants

NPEPPS

433 papers

RefSeq Summary

This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplas...

Pfam Domains

Peptidase_M1_Naa 59–245UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 280–497UCSCPeptidase family M1 domain

ERAP1_Caa 574–889UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

aminopeptidase puromycin sensitive

HGNC Alias Symbols

PSA; MP100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006310.4

p.D551A

c.1652A>C

Surrounding Variants

1 paper

NM_006310.4

p.S549R

c.1647T>A

1 paper

NM_006310.4

p.S549R

c.1647T>G

1 paper

NM_006310.4

p.S549N

c.1646G>A

1 paper

NM_006310.4

p.S549I

c.1646G>T

1 paper

NM_006310.4

p.S549R

c.1645A>C

1 paper

NM_006310.4

p.Q554R

c.1661A>G

2 papers

NM_006310.4

p.S547_T548insFs

c.1641_1642insG

1 paper

NM_006310.4

p.S547C

c.1640C>G

2 papers

NM_006310.4

p.K580E

c.1738A>G

1 paper

NM_006310.4

p.K580R

c.1739A>G

1 paper

NM_006310.4

p.G529D

c.1586G>A

1 paper

NM_006310.4

p.A528T

c.1582G>A