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.P489L

c.1466C>T

Surrounding Variants

2 papers

NM_006310.4

p.A485V

c.1454C>T

1 paper

NM_006310.4

p.N484S

c.1451A>G

1 paper

NM_006310.4

p.W479insFs

c.1436_1437ins5

1 paper

NM_006310.4

p.W479fs

c.1435_1436fs

2 papers

NM_006310.4

p.Q500*

c.1498C>T

6 papers

NM_006310.4

p.P504S

c.1510C>T

1 paper

NM_006310.4

p.P504L

c.1511C>T

1 paper

NM_006310.4

p.D515V

c.1544A>T

1 paper

NM_006310.4

p.D516E

c.1548C>A

1 paper

NM_006310.4

p.S522S

c.1566C>T

1 paper

NM_006310.4

p.A528T

c.1582G>A

1 paper

NM_006310.4

p.G529D

c.1586G>A