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

9 papers

NM_006310.4

p.F433C

c.1298T>G

Surrounding Variants

1 paper

NM_006310.4

p.K440I

c.1319A>T

1 paper

NM_006310.4

p.A442A

c.1326A>G

1 paper

NM_006310.4

p.S422N

c.1265G>A

1 paper

NM_006310.4

p.R446R

c.1336C>A

1 paper

NM_006310.4

p.D450N

c.1348G>A

1 paper

NM_006310.4

p.K455K

c.1365G>A

1 paper

NM_006310.4

p.N462N

c.1386C>T

1 paper

NM_006310.4

p.M463I

c.1389G>A

1 paper

NM_006310.4

p.K471K

c.1413G>A

1 paper

NM_006310.4

p.N415K

c.1245C>G

1 paper

NM_006310.4

p.E409E

c.1227G>A

1 paper

NM_006310.4

p.E392A

c.1175A>C