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.Q85Q

c.255G>A

Surrounding Variants

2 papers

NM_006310.4

p.E81A

c.242A>C

1 paper

NM_006310.4

p.L80L

c.238C>T

1 paper

NM_006310.4

p.E77A

c.230A>C

1 paper

NM_006310.4

p.E77*

c.229G>T

2 papers

NM_006310.4

p.P69insFs

c.205_206insA

1 paper

NM_006310.4

p.C66S

c.196T>A

1 paper

NM_006310.4

p.Y63C

c.188A>G

1 paper

NM_006310.4

p.N62S

c.185A>G

1 paper

NM_006310.4

p.S59S

c.177C>T

13 papers

NM_006310.4

p.R53Q

c.158G>A

1 paper

NM_006310.4

p.E52insFs

c.156dupG

1 paper

NM_006310.4

p.P50S

c.148C>T